A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674006



Internal ID9940111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231053804..231055686hg38UCSC Ensembl
chr2:231918518..231920400hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5988032, essv6591631
SamplesNA19914, NA19472
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674006
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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