A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656744



Internal ID9576163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21222370..21227289hg38UCSC Ensembl
chr14:21690529..21695448hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384920
hg194920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6504805, essv6027171
SamplesNA19383, NA19385
Known GenesHNRNPC
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656744
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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