A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751845



Internal ID12638711
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 StatusM
Merged Variants
Supporting Variantsessv6986454, essv6988684, essv6983530
SamplesBEC_666
Known GenesAGAP1, GBX2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751845
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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