A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658730



Internal ID9578149
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6347492, essv6002861, essv6362626, essv6023373, essv6543430
SamplesNA19404, NA19360, NA18615, NA19463, NA19429
Known GenesATP6V1B2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658730
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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