A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723222



Internal ID10306858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:18987919..18988132hg38UCSC Ensembl
Outerchr21:20360237..20360450hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933180, essv6950419, essv6874623, essv6696903, essv6972161, essv6807295, essv6871635, essv6721877, essv6675061, essv6888919, essv6892216
SamplesSSM024, SSM097, SSM074, SSM028, SSM090, SSM096, SSM031, SSM044, SSM020, SSM037, SSM091
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)esv2723222
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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