A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275222



Internal ID348128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:235842431..235845744hg38UCSC Ensembl
Outerchr2:235841287..235846918hg38UCSC Ensembl
Innerchr2:236751075..236754388hg19UCSC Ensembl
Outerchr2:236749931..236755562hg19UCSC Ensembl
Innerchr2:236415814..236419127hg18UCSC Ensembl
Outerchr2:236414670..236420301hg18UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg385632
hg195632
hg185632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585224
Samples
Known GenesAGAP1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275222
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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