A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990166



Internal ID12637538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31066246..31433428hg38UCSC Ensembl
Innerchr11:31087793..31454975hg19UCSC Ensembl
Innerchr11:31044369..31411551hg18UCSC Ensembl
Innerchr11:31044369..31411551hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38367183
hg19367183
hg18367183
hg17367183
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751022
Supporting Variants
SamplesSPC_83
Known GenesDCDC1, DNAJC24, IMMP1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990166
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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