A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983662



Internal ID12976665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113580701..113610295hg38UCSC Ensembl
Innerchr5:112916398..112945992hg19UCSC Ensembl
Innerchr5:112944297..112973891hg18UCSC Ensembl
Innerchr5:112944297..112973891hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3829595
hg1929595
hg1829595
hg1729595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752057
Supporting Variants
SamplesBEC_678
Known GenesYTHDC2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983662
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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