A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661295



Internal ID9927400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47760609..47808196hg38UCSC Ensembl
chr14:48229812..48277399hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3847588
hg1947588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6549189, essv6144452, essv5463221, essv6537913, essv5405989
SamplesNA12341, NA20768, NA19391, NA19982, NA19436
Known GenesLINC00648, MIR548Y
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661295
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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