A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986078



Internal ID12627700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:31584132..31700017hg38UCSC Ensembl
Innerchr7:31623746..31739631hg19UCSC Ensembl
Innerchr7:31590271..31706156hg18UCSC Ensembl
Innerchr7:31396986..31512871hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38115886
hg19115886
hg18115886
hg17115886
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986078
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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