A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6002861



Internal ID8980264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20199287..20200360hg38UCSC Ensembl
chr8:20056798..20057871hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658730
Supporting Variants
SamplesNA19429
Known GenesATP6V1B2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6002861
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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