A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607740



Internal ID6647979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179167601..179170445hg38UCSC Ensembl
Innerchr5:179167601..179170445hg38UCSC Ensembl
Outerchr5:179167473..179170564hg38UCSC Ensembl
chr5:178594602..178597446hg19UCSC Ensembl
Innerchr5:178594602..178597446hg19UCSC Ensembl
Outerchr5:178594474..178597565hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382845
hg192845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150331
SamplesHG01362
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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