A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11476582



Internal ID5932314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:67282104..67285951hg38UCSC Ensembl
Innerchr4:67282254..67285801hg38UCSC Ensembl
Outerchr4:67281954..67286101hg38UCSC Ensembl
chr4:68147822..68151669hg19UCSC Ensembl
Innerchr4:68147972..68151519hg19UCSC Ensembl
Outerchr4:68147672..68151819hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600843
Supporting Variants
SamplesNA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11476582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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