A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954372



Internal ID9982416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:39325466..39327102hg38UCSC Ensembl
Outerchr6:39293242..39294878hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg381637
hg191637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731954
Supporting Variants
SamplesSSM001
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)essv6954372
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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