A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662080



Internal ID9928185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84947279..84948682hg38UCSC Ensembl
chr2:85174402..85175805hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381404
hg191404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6485416, essv5600473, essv6387790
SamplesHG01052, HG00740, HG01101
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662080
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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