A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986301



Internal ID12975728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125444193..125684193hg38UCSC Ensembl
Innerchr2:126201770..126441770hg19UCSC Ensembl
Innerchr2:125918240..126158240hg18UCSC Ensembl
Innerchr2:125918000..126158000hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38240001
hg19240001
hg18240001
hg17240001
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)essv6986301
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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