A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663340



Internal ID9929445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:14739241..14740741hg38UCSC Ensembl
chr6:14739472..14740972hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6337751, essv5507860, essv5999721, essv6230551, essv6563005, essv5527568, essv5546319, essv5854428, essv6513827
SamplesNA19909, NA19130, NA19189, HG01384, NA18516, NA18907, NA19099, NA19711, NA19213
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663340
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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