A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751155



Internal ID12984707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:86038764..86166464hg38UCSC Ensembl
Innerchr13:86612899..86740599hg19UCSC Ensembl
Innerchr13:85510900..85638600hg18UCSC Ensembl
Innerchr13:85510900..85638600hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38127701
hg19127701
hg18127701
hg17127701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983982, essv6989890, essv6989891, essv6983983
SamplesBEC_74
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)esv2751155
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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