A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669212



Internal ID9935317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69297617..69300785hg38UCSC Ensembl
chr10:71057373..71060541hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg383169
hg193169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6237315, essv6393722, essv5398419, essv5435007, essv6519581, essv5430839, essv5698925
SamplesHG01079, NA18917, NA19130, NA18874, NA19445, NA19236, NA19360
Known GenesHK1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669212
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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