A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606427



Internal ID6993363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117465491..117466160hg38UCSC Ensembl
Innerchr5:117465492..117466159hg38UCSC Ensembl
Outerchr5:117465490..117466161hg38UCSC Ensembl
chr5:116801187..116801856hg19UCSC Ensembl
Innerchr5:116801188..116801855hg19UCSC Ensembl
Outerchr5:116801186..116801857hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12031300, essv12031301
SamplesHG02852, HG02635
Known GenesLINC00992
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606427
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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