A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671680



Internal ID9937785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29508324..29514278hg38UCSC Ensembl
chr2:29731190..29737144hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg385955
hg195955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6052875
SamplesNA19818
Known GenesALK
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671680
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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