A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989770



Internal ID12629389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110119048..110223048hg38UCSC Ensembl
Innerchr2:110876625..110980625hg19UCSC Ensembl
Innerchr2:110233914..110337914hg18UCSC Ensembl
Innerchr2:110234000..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38104001
hg19104001
hg18104001
hg17104001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751814
Supporting Variants
SamplesBEC_636
Known GenesLINC00116, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989770
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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