A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607527



Internal ID6994459
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12126345, essv12126346
SamplesNA18861, HG02061
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607527
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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