A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990143



Internal ID12984039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189621660..189834486hg38UCSC Ensembl
Innerchr4:190542814..190755641hg19UCSC Ensembl
Innerchr4:190779808..190992635hg18UCSC Ensembl
Innerchr4:190917963..191130790hg17UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38212827
hg19212828
hg18212828
hg17212828
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752042
Supporting Variants
SamplesSPC_50
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990143
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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