A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751780



Internal ID12985332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:78624064..78752312hg38UCSC Ensembl
Innerchr18:76384064..76512312hg19UCSC Ensembl
Innerchr18:74485052..74613300hg18UCSC Ensembl
Innerchr18:74485052..74613300hg17UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38128249
hg19128249
hg18128249
hg17128249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981316, essv6981318, essv6985542, essv6985543, essv6981317
SamplesBEC_385
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)esv2751780
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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