A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988489



Internal ID12627703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31593657..31698380hg38UCSC Ensembl
Innerchr7:31633271..31737994hg19UCSC Ensembl
Innerchr7:31599796..31704519hg18UCSC Ensembl
Innerchr7:31406511..31511234hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38104724
hg19104724
hg18104724
hg17104724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752155
Supporting Variants
SamplesBEC_518
Known GenesCCDC129, PPP1R17
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988489
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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