A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982890



Internal ID12975723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125435620..125683734hg38UCSC Ensembl
Innerchr2:126193197..126441311hg19UCSC Ensembl
Innerchr2:125909667..126157781hg18UCSC Ensembl
Innerchr2:125909427..126157541hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38248115
hg19248115
hg18248115
hg17248115
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982890
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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