A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750828



Internal ID12984380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:208270177..208281834hg38UCSC Ensembl
Innerchr1:208443522..208455179hg19UCSC Ensembl
Innerchr1:206510145..206521802hg18UCSC Ensembl
Innerchr1:204831917..204843574hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3811658
hg1911658
hg1811658
hg1711658
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv15e55
Supporting Variantsessv6987680, essv6984788, essv6984787
SamplesSPC_18
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750828
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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