A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12150344



Internal ID2152160
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607743
Supporting Variants
SamplesNA19068
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12150344
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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