A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659874



Internal ID2892961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74864959..74867280hg38UCSC Ensembl
chr2:75092086..75094407hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382322
hg192322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6310203, essv6077194
SamplesNA19437, NA18873
Known GenesHK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659874
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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