A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723605



Internal ID10307241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43467527..43468040hg38UCSC Ensembl
Outerchr21:44887407..44887920hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6675113, essv6789042, essv6933214, essv6773358, essv6937581
SamplesSSM065, SSM021, SSM069, SSM031, SSM020
Known GenesLINC00313
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)esv2723605
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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