A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605365



Internal ID6992387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68580329..68594611hg38UCSC Ensembl
Innerchr5:68580329..68594611hg38UCSC Ensembl
Outerchr5:68579829..68595111hg38UCSC Ensembl
chr5:67876156..67890438hg19UCSC Ensembl
Innerchr5:67876156..67890438hg19UCSC Ensembl
Outerchr5:67875656..67890938hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3814283
hg1914283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11937173
SamplesHG02490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605365
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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