A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669943



Internal ID9589362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102172218..102172906hg38UCSC Ensembl
chr14:102638555..102639243hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38689
hg19689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6517758, essv6103722, essv6165248, essv6030845, essv5448237, essv5908990, essv5790243
SamplesHG00182, HG00326, HG00139, HG01204, HG00319, HG00353, HG01375
Known GenesWDR20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669943
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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