A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732785



Internal ID10316421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:139307815..139308188hg38UCSC Ensembl
Outerchr6:139628952..139629325hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830273, essv6690571, essv6782313, essv6814424, essv6849290, essv6943545, essv6723328
SamplesSSM036, SSM045, SSM023, SSM086, SSM068, SSM081, SSM077
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)esv2732785
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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