A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12125271



Internal ID2127087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:166998807..167006548hg38UCSC Ensembl
Innerchr5:166998807..167006548hg38UCSC Ensembl
Outerchr5:166998521..167006825hg38UCSC Ensembl
chr5:166425812..166433553hg19UCSC Ensembl
Innerchr5:166425812..166433553hg19UCSC Ensembl
Outerchr5:166425526..166433830hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg387742
hg197742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607513
Supporting Variants
SamplesHG03698
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12125271
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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