A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797550



Internal ID18831016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82191745..82222495hg38UCSC Ensembl
Innerchr7:81821061..81851811hg19UCSC Ensembl
Innerchr7:81658997..81689747hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3830751
hg1930751
hg1830751
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891155
Supporting Variants
Samples
Known GenesCACNA2D1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797550
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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