A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613902



Internal ID6654110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82223407..82227531hg38UCSC Ensembl
chr7:81852723..81856847hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg384125
hg194125
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12869017
SamplesHG00404
Known GenesCACNA2D1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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