A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982891



Internal ID12975722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125444446..125683734hg38UCSC Ensembl
Innerchr2:126202023..126441311hg19UCSC Ensembl
Innerchr2:125918493..126157781hg18UCSC Ensembl
Innerchr2:125918253..126157541hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38239289
hg19239289
hg18239289
hg17239289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751825
Supporting Variants
SamplesBEC_608
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982891
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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