A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033663



Internal ID3221527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119401059..119402746hg38UCSC Ensembl
Innerchr5:119401069..119402736hg38UCSC Ensembl
Outerchr5:119401049..119402756hg38UCSC Ensembl
chr5:118736754..118738441hg19UCSC Ensembl
Innerchr5:118736764..118738431hg19UCSC Ensembl
Outerchr5:118736744..118738451hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381688
hg191688
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606485
Supporting Variants
SamplesHG02836
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033663
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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