A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607712



Internal ID6994644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178313945..178322569hg38UCSC Ensembl
Innerchr5:178313960..178322554hg38UCSC Ensembl
Outerchr5:178313930..178322584hg38UCSC Ensembl
chr5:177740946..177749570hg19UCSC Ensembl
Innerchr5:177740961..177749555hg19UCSC Ensembl
Outerchr5:177740931..177749585hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388625
hg198625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12147866
SamplesHG02325
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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