A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34484



Internal ID12990521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40343560..40449484hg38UCSC Ensembl
Innerchr7:40383159..40489083hg19UCSC Ensembl
Innerchr7:40349684..40455608hg18UCSC Ensembl
Innerchr7:40156399..40262323hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38105925
hg19105925
hg18105925
hg17105925
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979054, essv6979055, essv6986785, essv6986784
SamplesNA12872
Known GenesC7orf10
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)esv34484
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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