A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728477



Internal ID9962791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:143793451..143965497hg38UCSC Ensembl
Outerchr4:144714604..144886650hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38172047
hg19172047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv851e201
Supporting Variantsessv6844606, essv6865113, essv6790114, essv6690076, essv6956320, essv6942894, essv6922680, essv6683636, essv6852098, essv6722873, essv6676132, essv6739611, essv6683635, essv6903367, essv6924573, essv6725510, essv6726751, essv6770403, essv6840858, essv6825984, essv6907083, essv6872430, essv6942893, essv6680037, essv6848491, essv6764747, essv6854614, essv6785991, essv6719018, essv6907086, essv6756743, essv6739612, essv6865115, essv6854615, essv6722874, essv6924596, essv6857487, essv6754196, essv6878316, essv6886687, essv6823055, essv6823066, essv6924262, essv6872428, essv6903366, essv6860330, essv6829806, essv6857709, essv6910921, essv6736651, essv6739610, essv6739613, essv6676133, essv6715113, essv6942896, essv6837056, essv6808108, essv6791898, essv6974034, essv6951493, essv6852065, essv6884620, essv6889836, essv6670472, essv6756765, essv6899360, essv6829805, essv6725499, essv6884609, essv6670470, essv6869403, essv6837057, essv6924151, essv6748435, essv6667334, essv6722875, essv6794268, essv6745614, essv6844605, essv6844604, essv6791909, essv6777778, essv6963026, essv6869404, essv6810996, essv6805113, essv6734084, essv6852109, essv6817701, essv6813974, essv6798434, essv6938589, essv6734086, essv6798436, essv6918338, essv6857598, essv6754198, essv6790113, essv6869405, essv6957362, essv6974032, essv6722872, essv6817700, essv6764748, essv6697640, essv6957385, essv6947411, essv6794269, essv6756754, essv6730496, essv6813973, essv6675621, essv6745612, essv6781814, essv6754197, essv6798437, essv6745615, essv6805114, essv6676134, essv6730495, essv6865114, essv6918339, essv6840859, essv6860329, essv6726750, essv6708063, essv6951494, essv6675643, essv6745616, essv6957396, essv6947412, essv6680036, essv6860328, essv6848492, essv6907084, essv6914746, essv6896490, essv6878317, essv6670471, essv6930046, essv6889835, essv6924484, essv6881132, essv6802280, essv6893124, essv6852087, essv6822070, essv6700603, essv6742810, essv6848490, essv6833418, essv6734085, essv6823044, essv6974033, essv6924373, essv6875394, essv6808110, essv6745613, essv6924584, essv6667333, essv6922681, essv6711477, essv6872429, essv6675632, essv6833417, essv6852076, essv6777779, essv6947413, essv6693756, essv6808107, essv6781815, essv6794270, essv6745617, essv6676130, essv6942897, essv6881133, essv6700602, essv6798435, essv6924040
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM023, SSM058, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesGYPE
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2728477
Frequency
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


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