A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606759



Internal ID6993694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:129553917..129555216hg38UCSC Ensembl
Innerchr5:129553975..129555159hg38UCSC Ensembl
Outerchr5:129553860..129555274hg38UCSC Ensembl
chr5:128889610..128890909hg19UCSC Ensembl
Innerchr5:128889668..128890852hg19UCSC Ensembl
Outerchr5:128889553..128890967hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12062024
SamplesHG00701
Known GenesADAMTS19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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