A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12126337



Internal ID2315893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167651074..167723760hg38UCSC Ensembl
Innerchr5:167651076..167723758hg38UCSC Ensembl
Outerchr5:167651072..167723762hg38UCSC Ensembl
chr5:167078079..167150765hg19UCSC Ensembl
Innerchr5:167078081..167150763hg19UCSC Ensembl
Outerchr5:167078077..167150767hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3872687
hg1972687
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607525
Supporting Variants
SamplesHG02061
Known GenesTENM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12126337
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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