A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34425



Internal ID12990464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:61283174..63245808hg38UCSC Ensembl
Innerchr7:61265899..62706186hg19UCSC Ensembl
Innerchr7:61269841..62343621hg18UCSC Ensembl
Innerchr7:61076556..62150336hg17UCSC Ensembl
Cytoband7q11.1
Allele length
AssemblyAllele length
hg381962635
hg191440288
hg181073781
hg171073781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv225e55
Supporting Variantsessv6978605, essv6990259, essv6986656
SamplesNA12005
Known Genes
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)esv34425
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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