A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891982



Internal ID18839692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42192689..42224414hg38UCSC Ensembl
Outerchr2:42192689..42224414hg38UCSC Ensembl
Innerchr2:42419829..42451554hg19UCSC Ensembl
Outerchr2:42419829..42451554hg19UCSC Ensembl
Innerchr2:42273333..42305058hg18UCSC Ensembl
Outerchr2:42273333..42305058hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831726
hg1931726
hg1831726
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25782150
Samples
Known GenesEML4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891982
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer