A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947802



Internal ID10056284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37753640..37753851hg38UCSC Ensembl
Outerchr6:37721416..37721627hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731936, esv2731935
Supporting Variants
SamplesSSM024
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)essv6947802
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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