A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605067



Internal ID6992095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:53343870..53345225hg38UCSC Ensembl
Innerchr5:53343870..53345225hg38UCSC Ensembl
Outerchr5:53343692..53345429hg38UCSC Ensembl
chr5:52639700..52641055hg19UCSC Ensembl
Innerchr5:52639700..52641055hg19UCSC Ensembl
Outerchr5:52639522..52641259hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381356
hg191356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11903556
SamplesHG02881
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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