A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750817



Internal ID12984369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:187101223..188020463hg38UCSC Ensembl
Innerchr1:187070355..187989594hg19UCSC Ensembl
Innerchr1:185336978..186256217hg18UCSC Ensembl
Innerchr1:183802012..184721251hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38919241
hg19919240
hg18919240
hg17919240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989196, essv6987845, essv6987844, essv6980762, essv6980761
SamplesBEC_132
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)esv2750817
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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