A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893337



Internal ID18837471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130722838..131194387hg38UCSC Ensembl
Outerchr2:130722838..131194387hg38UCSC Ensembl
Innerchr2:131480411..131951960hg19UCSC Ensembl
Outerchr2:131480411..131951960hg19UCSC Ensembl
Innerchr2:131196881..131668430hg18UCSC Ensembl
Outerchr2:131196881..131668430hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38471550
hg19471550
hg18471550
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796343
Samples
Known GenesAMER3, ARHGEF4, FAM168B, GPR148, PLEKHB2
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893337
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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