A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678350



Internal ID9944455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14712778..14715117hg38UCSC Ensembl
chr2:14852902..14855241hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6261443, essv5498518, essv5557818, essv5507925, essv5439549, essv6188664, essv5917124
SamplesNA19355, NA18910, NA18912, NA18858, NA19434, NA19444, HG01108
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678350
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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