A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605138



Internal ID6992166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57511081..57520531hg38UCSC Ensembl
Innerchr5:57511094..57520518hg38UCSC Ensembl
Outerchr5:57511068..57520544hg38UCSC Ensembl
chr5:56806908..56816358hg19UCSC Ensembl
Innerchr5:56806921..56816345hg19UCSC Ensembl
Outerchr5:56806895..56816371hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg389451
hg199451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11913613, essv11913614
SamplesHG03943, HG03760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605138
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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