A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6795667



Internal ID10199430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5157766..5277332hg38UCSC Ensembl
Outerchr10:5199967..5319295hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38119567
hg19119329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731707
Supporting Variants
SamplesSSM071
Known GenesAKR1C4, AKR1CL1
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)essv6795667
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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