A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25783500



Internal ID19171054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78154736..78483707hg38UCSC Ensembl
Innerchr2:78381862..78710833hg19UCSC Ensembl
Innerchr2:78235370..78564341hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38328972
hg19328972
hg18328972
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892759
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=68
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25783500
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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