A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988684



Internal ID12629759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235963461..236174434hg38UCSC Ensembl
Innerchr2:236872105..237083077hg19UCSC Ensembl
Innerchr2:236536844..236747816hg18UCSC Ensembl
Innerchr2:236654105..236865077hg17UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38210974
hg19210973
hg18210973
hg17210973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751845
Supporting Variants
SamplesBEC_666
Known GenesAGAP1, GBX2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988684
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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