A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023706



Internal ID1462033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114139825..114177263hg38UCSC Ensembl
Innerchr5:114139888..114177200hg38UCSC Ensembl
Outerchr5:114139762..114177326hg38UCSC Ensembl
chr5:113475522..113512960hg19UCSC Ensembl
Innerchr5:113475585..113512897hg19UCSC Ensembl
Outerchr5:113475459..113513023hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3837439
hg1937439
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606334
Supporting Variants
SamplesHG01351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023706
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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