A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936757



Internal ID4815993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67041568..67042174hg38UCSC Ensembl
Innerchr5:67041618..67042124hg38UCSC Ensembl
Outerchr5:67041494..67042248hg38UCSC Ensembl
chr5:66337396..66338002hg19UCSC Ensembl
Innerchr5:66337446..66337952hg19UCSC Ensembl
Outerchr5:66337322..66338076hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605326
Supporting Variants
SamplesNA12005
Known GenesMAST4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936757
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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