A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023532



Internal ID4469759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:113620657..113650562hg38UCSC Ensembl
Innerchr5:113620692..113650527hg38UCSC Ensembl
Outerchr5:113620622..113650597hg38UCSC Ensembl
chr5:112956354..112986259hg19UCSC Ensembl
Innerchr5:112956389..112986224hg19UCSC Ensembl
Outerchr5:112956319..112986294hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3829906
hg1929906
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606321
Supporting Variants
SamplesHG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023532
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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