A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730149



Internal ID9964465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:44794875..44795499hg38UCSC Ensembl
Outerchr5:44794977..44795601hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6884011, essv6808215, essv6794424, essv6759831, essv6875505, essv6914891, essv6889979, essv6951656, essv6865304, essv6918523, essv6693915, essv6943104, essv6781983, essv6853398, essv6774411, essv6739760, essv6700790, essv6860523, essv6798606, essv6947585, essv6938774, essv6723010, essv6767333, essv6956621, essv6754318, essv6896589, essv6670759, essv6930227, essv6824166, essv6683799, essv6881227, essv6935818, essv6676611, essv6676311, essv6742940, essv6848750, essv6926601, essv6680197, essv6702155, essv6963334, essv6790287, essv6764841, essv6690225, essv6730661, essv6697759, essv6817900, essv6958762, essv6748552, essv6751404, essv6814118, essv6907261, essv6829960, essv6899502, essv6792987, essv6736786, essv6805227, essv6786163, essv6926140, essv6868820, essv6922838, essv6667415, essv6719192, essv6822236, essv6708202, essv6777950, essv6969131, essv6833581, essv6844722, essv6903520
SamplesSSM010, SSM022, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM033, SSM061, SSM099, SSM078, SSM088, SSM089, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM050, SSM097, SSM041, SSM077, SSM005, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM003, SSM095, SSM030, SSM047, SSM069, SSM002, SSM037, SSM034, SSM063, SSM038, SSM019, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM026, SSM014, SSM018, SSM058, SSM081, SSM070
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)esv2730149
Frequency
Sample Size96
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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