A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978369



Internal ID12635167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17128201..17378133hg38UCSC Ensembl
Innerchr7:17167825..17417757hg19UCSC Ensembl
Innerchr7:17134350..17384282hg18UCSC Ensembl
Innerchr7:16941065..17190997hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38249933
hg19249933
hg18249933
hg17249933
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34717
Supporting Variants
SamplesNA19007
Known GenesAHR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978369
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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