A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34608



Internal ID12643958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75594376..75686819hg38UCSC Ensembl
Innerchr2:75821502..75913945hg19UCSC Ensembl
Innerchr2:75675010..75767453hg18UCSC Ensembl
Innerchr2:75733157..75825600hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3892444
hg1992444
hg1892444
hg1792444
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv152e55
Supporting Variantsessv6986869, essv6986870, essv6979441, essv6979442
SamplesNA18555
Known GenesGCFC2, MRPL19
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)esv34608
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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