A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732760



Internal ID10316396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136278780..136279765hg38UCSC Ensembl
Outerchr6:136599918..136600903hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1016e201
Supporting Variantsessv6903808, essv6704476, essv6887092, essv6872849, essv6881506, essv6869849, essv6719537, essv6929551, essv6923162, essv6727211, essv6855374, essv6705126, essv6865711, essv6899785, essv6830269, essv6849285, essv6918927
SamplesSSM100, SSM046, SSM087, SSM013, SSM090, SSM018, SSM096, SSM089, SSM017, SSM094, SSM003, SSM044, SSM086, SSM006, SSM081, SSM040, SSM091
Known GenesBCLAF1
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)esv2732760
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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