A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607741



Internal ID6647980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179298038..179303403hg38UCSC Ensembl
Innerchr5:179298075..179303367hg38UCSC Ensembl
Outerchr5:179298002..179303440hg38UCSC Ensembl
chr5:178725039..178730404hg19UCSC Ensembl
Innerchr5:178725076..178730368hg19UCSC Ensembl
Outerchr5:178725003..178730441hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385366
hg195366
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150332
SamplesNA19025
Known GenesADAMTS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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