A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11432330



Internal ID5629192
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600508
Supporting Variants
SamplesNA19057
Known GenesERVMER34-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11432330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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