A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781757



Internal ID19177192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231429669..231436959hg38UCSC Ensembl
Innerchr2:232294380..232301670hg19UCSC Ensembl
Innerchr2:232002624..232009914hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg387291
hg197291
hg187291
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893566
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781757
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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