A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664640



Internal ID9930745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50251143..50260292hg38UCSC Ensembl
chr14:50717861..50727010hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5774602, essv6304412, essv6387754
SamplesNA19397, NA20589, HG00554
Known GenesL2HGDH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664640
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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