A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980357



Internal ID12978248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19379937..19488837hg38UCSC Ensembl
Innerchr7:19419560..19528460hg19UCSC Ensembl
Innerchr7:19386085..19494985hg18UCSC Ensembl
Innerchr7:19192800..19301700hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38108901
hg19108901
hg18108901
hg17108901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34500
Supporting Variants
SamplesNA07345
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980357
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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