A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869016



Internal ID2870832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82199365..82201322hg38UCSC Ensembl
Innerchr7:82199385..82201302hg38UCSC Ensembl
Outerchr7:82199345..82201342hg38UCSC Ensembl
chr7:81828681..81830638hg19UCSC Ensembl
Innerchr7:81828701..81830618hg19UCSC Ensembl
Outerchr7:81828661..81830658hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381958
hg191958
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613901
Supporting Variants
SamplesHG04214
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869016
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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