A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671687



Internal ID9937792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:106233354..106773460hg38UCSC Ensembl
chr14:106689963..107181699hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38540107
hg19491737
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv429e199
Supporting Variantsessv5731067, essv5528328, essv5703299, essv6343261, essv5580102, essv6284336, essv6243869, essv6230168, essv6365465, essv6514763, essv5435150, essv5507501
SamplesNA20507, NA18916, NA20539, NA18638, HG00701, HG00246, NA19147, NA19473, HG01551, HG00607, HG00418, HG00339
Known GenesLINC00221, LINC00226
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671687
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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