A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751772



Internal ID12985324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:1678745..1863988hg38UCSC Ensembl
Innerchr18:1678746..1863989hg19UCSC Ensembl
Innerchr18:1668746..1853989hg18UCSC Ensembl
Innerchr18:1668746..1853989hg17UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38185244
hg19185244
hg18185244
hg17185244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981894, essv6989538, essv6981895, essv6989270
SamplesBEC_5
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)esv2751772
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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