A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780732



Internal ID18831948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183132715..185153315hg38UCSC Ensembl
Innerchr2:183997443..186018042hg19UCSC Ensembl
Innerchr2:183705688..185726287hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382020601
hg192020600
hg182020600
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893517
Supporting Variants
Samples
Known GenesNUP35, ZNF804A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=340
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780732
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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