A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796864



Internal ID18824424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82285870..82297492hg38UCSC Ensembl
Innerchr7:81915186..81926808hg19UCSC Ensembl
Innerchr7:81753122..81764744hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3811623
hg1911623
hg1811623
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891156
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796864
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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