A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11937055



Internal ID1848000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68104733..68109773hg38UCSC Ensembl
Innerchr5:68104783..68109723hg38UCSC Ensembl
Outerchr5:68104649..68109857hg38UCSC Ensembl
chr5:67400561..67405601hg19UCSC Ensembl
Innerchr5:67400611..67405551hg19UCSC Ensembl
Outerchr5:67400477..67405685hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg385041
hg195041
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605357
Supporting Variants
SamplesHG01710
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11937055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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