A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15246634



Internal ID2049463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:50014394..50021321hg38UCSC Ensembl
Innerchr15:50014394..50021321hg38UCSC Ensembl
Outerchr15:50013894..50021821hg38UCSC Ensembl
chr15:50306591..50313518hg19UCSC Ensembl
Innerchr15:50306591..50313518hg19UCSC Ensembl
Outerchr15:50306091..50314018hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg386928
hg196928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636435
Supporting Variants
SamplesHG01872
Known GenesATP8B4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15246634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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