A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126349



Internal ID5271361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168034492..168035282hg38UCSC Ensembl
Innerchr5:168034503..168035271hg38UCSC Ensembl
Outerchr5:168034481..168035293hg38UCSC Ensembl
chr5:167461497..167462287hg19UCSC Ensembl
Innerchr5:167461508..167462276hg19UCSC Ensembl
Outerchr5:167461486..167462298hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38791
hg19791
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607529
Supporting Variants
SamplesNA18642
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126349
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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