A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978603



Internal ID12978815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:113433086..113440730hg38UCSC Ensembl
Innerchr4:114354242..114361886hg19UCSC Ensembl
Innerchr4:114573691..114581335hg18UCSC Ensembl
Innerchr4:114711846..114719490hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg387645
hg197645
hg187645
hg177645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34797
Supporting Variants
SamplesNA12005
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978603
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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