A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783540



Internal ID19176761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241764138..241804528hg38UCSC Ensembl
Innerchr2:242703553..242743943hg19UCSC Ensembl
Innerchr2:242352226..242392616hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3840391
hg1940391
hg1840391
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893578
Supporting Variants
Samples
Known GenesD2HGDH, GAL3ST2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783540
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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