A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592121



Internal ID6979448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117003878..117035134hg38UCSC Ensembl
chr2:117761454..117792710hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3831257
hg1931257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10637021, essv10637025, essv10637020, essv10637028, essv10637019, essv10637024, essv10637026, essv10637023, essv10637018, essv10637027, essv10637017, essv10637029, essv10637030, essv10637022
SamplesHG01441, NA19704, HG03079, HG01893, HG02009, HG02449, NA19118, NA18912, NA19099, NA19017, HG02667, HG02308, NA18505, NA19429
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592121
Frequency
Sample Size2504
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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