A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893259



Internal ID19184079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123151149..123284520hg38UCSC Ensembl
Outerchr2:123151149..123284520hg38UCSC Ensembl
Innerchr2:123908725..124042096hg19UCSC Ensembl
Outerchr2:123908725..124042096hg19UCSC Ensembl
Innerchr2:123625195..123758566hg18UCSC Ensembl
Outerchr2:123625195..123758566hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38133372
hg19133372
hg18133372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25796200
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893259
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