A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670340



Internal ID9936445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121642905..121643801hg38UCSC Ensembl
chr9:124405184..124406080hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6149522, essv6310105, essv6115839, essv5844147, essv5754416, essv6168313, essv5459652
SamplesHG01173, NA20543, NA07048, NA20812, NA19663, NA20770, NA20582
Known GenesDAB2IP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670340
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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