A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12067196



Internal ID2069012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135589794..135594712hg38UCSC Ensembl
Innerchr5:135589844..135594662hg38UCSC Ensembl
Outerchr5:135589706..135594800hg38UCSC Ensembl
chr5:134925484..134930402hg19UCSC Ensembl
Innerchr5:134925534..134930352hg19UCSC Ensembl
Outerchr5:134925396..134930490hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384919
hg194919
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606864
Supporting Variants
SamplesHG03091
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12067196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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