A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869017



Internal ID2870833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82223407..82227531hg38UCSC Ensembl
chr7:81852723..81856847hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613902
Supporting Variants
SamplesHG00404
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869017
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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