A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657744



Internal ID9923849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:61363676..61385131hg38UCSC Ensembl
Outerchr14:61363639..61385181hg38UCSC Ensembl
Innerchr14:61830394..61851849hg19UCSC Ensembl
Outerchr14:61830357..61851899hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3821543
hg1921543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6234845
SamplesNA19172
Known GenesPRKCH
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657744
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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