A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25784843



Internal ID18818297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206115621..206147759hg38UCSC Ensembl
Innerchr2:206980345..207012483hg19UCSC Ensembl
Innerchr2:206688590..206720728hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3832139
hg1932139
hg1832139
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893538
Supporting Variants
Samples
Known GenesGCSHP3, NDUFS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25784843
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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