A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869022



Internal ID2870838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82290684..82298220hg38UCSC Ensembl
Innerchr7:82291184..82297720hg38UCSC Ensembl
Outerchr7:82289684..82299220hg38UCSC Ensembl
chr7:81920000..81927536hg19UCSC Ensembl
Innerchr7:81920500..81927036hg19UCSC Ensembl
Outerchr7:81919000..81928536hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg387537
hg197537
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613905
Supporting Variants
SamplesHG00403
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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