A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674264



Internal ID9940369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28862562..28864337hg38UCSC Ensembl
Outerchr2:28862405..28864490hg38UCSC Ensembl
Innerchr2:29085428..29087203hg19UCSC Ensembl
Outerchr2:29085271..29087356hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg382086
hg192086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5807084, essv6390578, essv6523180
SamplesHG01083, HG01102, NA19099
Known GenesTRMT61B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674264
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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