A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664109



Internal ID9583528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74036990..74045584hg38UCSC Ensembl
chr14:74503693..74512287hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388595
hg198595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5603145, essv5552181, essv6589755
SamplesHG00702, HG00629, HG00656
Known GenesCCDC176
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664109
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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