A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737136



Internal ID10320772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69445165..69445654hg38UCSC Ensembl
Outerchr8:70357400..70357889hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38490
hg19490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755059, essv6766532, essv6830631, essv6765418, essv6856226, essv6757846, essv6904763, essv6752110, essv6740534, essv6763004, essv6927400, essv6841868, essv6975988, essv6935425, essv6818961, essv6760535, essv6904348
SamplesSSM059, SSM008, SSM087, SSM013, SSM002, SSM057, SSM058, SSM084, SSM021, SSM061, SSM029, SSM062, SSM019, SSM078, SSM010, SSM052, SSM063
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)esv2737136
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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