A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798255



Internal ID19168544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83736956..84158440hg38UCSC Ensembl
Innerchr2:83964080..84385564hg19UCSC Ensembl
Innerchr2:83817591..84239075hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38421485
hg19421485
hg18421485
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892871
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=70
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798255
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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