A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34547



Internal ID12643898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40037433..40191366hg38UCSC Ensembl
Innerchr7:40077032..40230965hg19UCSC Ensembl
Innerchr7:40043557..40197490hg18UCSC Ensembl
Innerchr7:39850272..40004205hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38153934
hg19153934
hg18153934
hg17153934
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979649, essv6979648, essv6986919, essv6986920
SamplesNA18592
Known GenesC7orf10, CDK13, MPLKIP
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)esv34547
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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