A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607743



Internal ID6647982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179301979..179413450hg38UCSC Ensembl
chr5:178728980..178840451hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38111472
hg19111472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150340, essv12150339, essv12150343, essv12150341, essv12150342, essv12150344
SamplesHG00463, NA19068, NA18956, NA19000, HG00478, NA18610
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607743
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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