A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600843



Internal ID6987882
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11476582, essv11476581
SamplesHG04029, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600843
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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