A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6472920



Internal ID9450323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82170669..82171479hg38UCSC Ensembl
chr7:81799985..81800795hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38811
hg19811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672825
Supporting Variants
SamplesNA19065
Known GenesCACNA2D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6472920
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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