A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613903



Internal ID6654111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82223407..82227531hg38UCSC Ensembl
chr7:81852723..81856847hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12869019, essv12869018, essv12869020
SamplesHG04056, HG03021, NA19664
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613903
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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