A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607737



Internal ID6647976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179121885..179136585hg38UCSC Ensembl
chr5:178548886..178563586hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3814701
hg1914701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150325, essv12150327, essv12150326
SamplesHG00596, HG00634, HG00629
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607737
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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