A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033696



Internal ID3518515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119601328..119603070hg38UCSC Ensembl
Innerchr5:119601342..119603057hg38UCSC Ensembl
Outerchr5:119601315..119603084hg38UCSC Ensembl
chr5:118937023..118938765hg19UCSC Ensembl
Innerchr5:118937037..118938752hg19UCSC Ensembl
Outerchr5:118937010..118938779hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606491
Supporting Variants
SamplesHG03117
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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