A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751892



Internal ID12638758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43580926..43768352hg38UCSC Ensembl
Innerchr2:43808065..43995491hg19UCSC Ensembl
Innerchr2:43661569..43848995hg18UCSC Ensembl
Innerchr2:43719716..43907142hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38187427
hg19187427
hg18187427
hg17187427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv148e55
Supporting Variantsessv6989777, essv6983357, essv6983356, essv6989776
SamplesBEC_642
Known GenesLOC728819, PLEKHH2, THADA
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)esv2751892
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer