A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11943606



Internal ID2604207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72336560..72337819hg38UCSC Ensembl
Innerchr5:72336610..72337769hg38UCSC Ensembl
Outerchr5:72336504..72337875hg38UCSC Ensembl
chr5:71632387..71633646hg19UCSC Ensembl
Innerchr5:71632437..71633596hg19UCSC Ensembl
Outerchr5:71632331..71633702hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381260
hg191260
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605404
Supporting Variants
SamplesHG02308
Known GenesPTCD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11943606
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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