A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752155



Internal ID12639021
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 StatusM
Merged Variants
Supporting Variantsessv6982077, essv6986078, essv6988489
SamplesBEC_518
Known GenesCCDC129, PPP1R17
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752155
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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