A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12869511



Internal ID2871327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82381662..82385009hg38UCSC Ensembl
Innerchr7:82381670..82385002hg38UCSC Ensembl
Outerchr7:82381655..82385017hg38UCSC Ensembl
chr7:82010978..82014325hg19UCSC Ensembl
Innerchr7:82010986..82014318hg19UCSC Ensembl
Outerchr7:82010971..82014333hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613908
Supporting Variants
SamplesHG00593
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12869511
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer