A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750841



Internal ID12984393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:82613288..82711896hg38UCSC Ensembl
Innerchr1:83078971..83177579hg19UCSC Ensembl
Innerchr1:82851559..82950167hg18UCSC Ensembl
Innerchr1:82790992..82889600hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3898609
hg1998609
hg1898609
hg1798609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983217, essv6983218, essv6989755, essv6989353
SamplesBEC_557
Known Genes
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)esv2750841
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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