A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656644



Internal ID9576063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:60985789..60988378hg38UCSC Ensembl
Outerchr14:60985751..60988428hg38UCSC Ensembl
Innerchr14:61452507..61455096hg19UCSC Ensembl
Outerchr14:61452469..61455146hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg382678
hg192678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5694407
SamplesNA19003
Known GenesSLC38A6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656644
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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