A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605118



Internal ID6992146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56315783..56317330hg38UCSC Ensembl
Innerchr5:56315783..56317330hg38UCSC Ensembl
Outerchr5:56315616..56317465hg38UCSC Ensembl
chr5:55611610..55613157hg19UCSC Ensembl
Innerchr5:55611610..55613157hg19UCSC Ensembl
Outerchr5:55611443..55613292hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11910170, essv11910169, essv11910171
SamplesHG00326, HG00336, HG00353
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605118
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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