A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613908



Internal ID6654116
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12869511
SamplesHG00593
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613908
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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