A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723889



Internal ID10307525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46111559..46111806hg38UCSC Ensembl
Outerchr21:47531473..47531720hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784155, essv6679101, essv6824917, essv6836111, essv6682788, essv6925636, essv6721945, essv6868689, essv6828946, essv6859126
SamplesSSM008, SSM079, SSM087, SSM018, SSM089, SSM032, SSM044, SSM033, SSM082, SSM080
Known GenesCOL6A2
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)esv2723889
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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