A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16046263



Internal ID4840484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35660715..35669498hg38UCSC Ensembl
Innerchr19:35660715..35669498hg38UCSC Ensembl
Outerchr19:35660529..35669658hg38UCSC Ensembl
chr19:36151617..36160400hg19UCSC Ensembl
Innerchr19:36151617..36160400hg19UCSC Ensembl
Outerchr19:36151431..36160560hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg388784
hg198784
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644239
Supporting Variants
SamplesNA12155
Known GenesUPK1A, UPK1A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16046263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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