A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990472



Internal ID12978257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:19379963..19488805hg38UCSC Ensembl
Innerchr7:19419586..19528428hg19UCSC Ensembl
Innerchr7:19386111..19494953hg18UCSC Ensembl
Innerchr7:19192826..19301668hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38108843
hg19108843
hg18108843
hg17108843
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)essv6990472
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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