A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677409



Internal ID9943514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84589623..84590406hg38UCSC Ensembl
chr2:84816747..84817530hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38784
hg19784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6008333, essv6074075, essv5507410, essv6518719, essv5815673, essv6443480
SamplesNA20537, NA19678, NA20775, NA20810, NA19675, NA19685
Known GenesDNAH6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677409
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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