A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12868974



Internal ID2870790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82170631..82171480hg38UCSC Ensembl
Innerchr7:82170631..82171480hg38UCSC Ensembl
Outerchr7:82170352..82171780hg38UCSC Ensembl
chr7:81799947..81800796hg19UCSC Ensembl
Innerchr7:81799947..81800796hg19UCSC Ensembl
Outerchr7:81799668..81801096hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38850
hg19850
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613898
Supporting Variants
SamplesHG00956
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12868974
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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