A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723129



Internal ID10306765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10753961..10754801hg38UCSC Ensembl
Outerchr21:10757656..10758496hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv695e201
Supporting Variantsessv6950409, essv6836050, essv6846877, essv6821056, essv6868618, essv6917297, essv6950410, essv6747696, essv6804326, essv6784847, essv6954557, essv6780719, essv6807283
SamplesSSM024, SSM073, SSM074, SSM089, SSM067, SSM085, SSM068, SSM082, SSM078, SSM016, SSM055, SSM025
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)esv2723129
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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