A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751925



Internal ID12985477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18035494..21000411hg38UCSC Ensembl
Innerchr21:19407812..22372729hg19UCSC Ensembl
Innerchr21:18329683..21294600hg18UCSC Ensembl
Innerchr21:18329683..21294600hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382964918
hg192964918
hg182964918
hg172964918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984061, essv6984062, essv6989908, essv6989410, essv6984063, essv6989907, essv6984064
SamplesBEC_765
Known GenesCHODL, LINC00320, NCAM2, TMPRSS15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751925
Frequency
Sample Size771
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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