A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15246635



Internal ID5248451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50098710..50166942hg38UCSC Ensembl
chr15:50390907..50459139hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg3868233
hg1968233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636436
Supporting Variants
SamplesHG04153
Known GenesATP8B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15246635
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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