A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600508



Internal ID6987551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52748075..52749908hg38UCSC Ensembl
Innerchr4:52748075..52749908hg38UCSC Ensembl
Outerchr4:52747925..52750006hg38UCSC Ensembl
chr4:53614242..53616075hg19UCSC Ensembl
Innerchr4:53614242..53616075hg19UCSC Ensembl
Outerchr4:53614092..53616173hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381834
hg191834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11432330, essv11432331
SamplesNA19057, NA19917
Known GenesERVMER34-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600508
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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