A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723042



Internal ID10306678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9056953..9057705hg38UCSC Ensembl
Outerchr21:9895786..9896538hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38753
hg19753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv682e201
Supporting Variantsessv6769408, essv6853035, essv6735918, essv6928936, essv6913864, essv6666747, essv6961287, essv6950388, essv6682724
SamplesSSM024, SSM064, SSM029, SSM026, SSM019, SSM086, SSM033, SSM015, SSM049
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)esv2723042
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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