A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11388096



Internal ID865285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:32348705..32353597hg38UCSC Ensembl
Innerchr4:32348743..32353560hg38UCSC Ensembl
Outerchr4:32348668..32353635hg38UCSC Ensembl
chr4:32350327..32355219hg19UCSC Ensembl
Innerchr4:32350365..32355182hg19UCSC Ensembl
Outerchr4:32350290..32355257hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg384893
hg194893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3600113
Supporting Variants
SamplesHG00452
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11388096
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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