A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751778



Internal ID12985330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:71178606..71400763hg38UCSC Ensembl
Innerchr18:68845842..69067999hg19UCSC Ensembl
Innerchr18:66996822..67218979hg18UCSC Ensembl
Innerchr18:66996822..67218979hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg38222158
hg19222158
hg18222158
hg17222158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988931, essv6988878, essv6985009, essv6987141
SamplesSPC_31
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)esv2751778
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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