A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11317293



Internal ID5849695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3058474..3067962hg38UCSC Ensembl
chr4:3060201..3069689hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg389489
hg199489
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599420
Supporting Variants
SamplesNA19223
Known GenesHTT-AS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11317293
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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