A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126345



Internal ID2315811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167691349..167699433hg38UCSC Ensembl
Innerchr5:167691357..167699425hg38UCSC Ensembl
Outerchr5:167691341..167699441hg38UCSC Ensembl
chr5:167118354..167126438hg19UCSC Ensembl
Innerchr5:167118362..167126430hg19UCSC Ensembl
Outerchr5:167118346..167126446hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg388085
hg198085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607527
Supporting Variants
SamplesHG02061
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126345
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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