A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6794694



Internal ID10198394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71028786..71029010hg38UCSC Ensembl
Outerchr6:71738489..71738713hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732258, esv2732257
Supporting Variants
SamplesSSM071
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)essv6794694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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