A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731659



Internal ID10315295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19764796..19770997hg38UCSC Ensembl
Outerchr6:19765027..19771228hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg386202
hg196202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918665, essv6872650, essv6814244, essv6719327, essv6927429, essv6860726, essv6837346, essv6922978, essv6926705, essv6878546, essv6754458, essv6818123, essv6683935, essv6794574, essv6770714, essv6833693, essv6825299, essv6878486, essv6811230, essv6959806, essv6899609, essv6802506, essv6715424, essv6759962, essv6794232, essv6890139, essv6743074, essv6694080, essv6759787, essv6826305, essv6736904, essv6896712, essv6748670, essv6703121, essv6911242, essv6751529, essv6875628, essv6865498, essv6798754, essv6677600, essv6805341, essv6841170, essv6708339, essv6700980, essv6745889, essv6915002, essv6907456, essv6730795, essv6956884, essv6687180, essv6947719, essv6969278, essv6887408, essv6774541, essv6704913, essv6786308, essv6767447, essv6881336, essv6808322, essv6830108, essv6739910, essv6844825, essv6945818, essv6951798, essv6778103, essv6711759, essv6854787, essv6676465, essv6974661, essv6723152, essv6734285, essv6790429, essv6855124, essv6903654, essv6757335, essv6849010
SamplesSSM100, SSM059, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM011, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM067, SSM044, SSM001, SSM014, SSM086, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM082, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM010, SSM091, SSM055, SSM070, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM012
Known Genes
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)esv2731659
Frequency
Sample Size96
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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