A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672825



Internal ID9592244
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6068692, essv6058342, essv5420373, essv5853817, essv6010667, essv6528313, essv6472920
SamplesHG00607, HG00449, HG00581, HG00578, NA19075, HG00611, NA19065
Known GenesCACNA2D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672825
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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