A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979965



Internal ID12981037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196874041..196878281hg38UCSC Ensembl
Innerchr1:196843171..196847411hg19UCSC Ensembl
Innerchr1:195109794..195114034hg18UCSC Ensembl
Innerchr1:193574828..193579068hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg384241
hg194241
hg184241
hg174241
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34855
Supporting Variants
SamplesNA18870
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979965
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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