A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982781



Internal ID12975527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44968465..45070189hg38UCSC Ensembl
Innerchr4:44970482..45072206hg19UCSC Ensembl
Innerchr4:44665239..44766963hg18UCSC Ensembl
Innerchr4:44811410..44913134hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38101725
hg19101725
hg18101725
hg17101725
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752047
Supporting Variants
SamplesBEC_592
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982781
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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