A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11910170



Internal ID716063
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605118
Supporting Variants
SamplesHG00336
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11910170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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