A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613898



Internal ID6654106
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12868970, essv12868979, essv12868974, essv12868975, essv12868973, essv12868977, essv12868976, essv12868971, essv12868978, essv12868972
SamplesHG00607, HG01811, HG00956, HG00449, HG00581, NA18979, NA19075, HG00611, NA18946, NA19065
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613898
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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