A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644239



Internal ID7030995
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv659e214
Supporting Variantsessv16046264, essv16046263
SamplesNA12155, NA20522
Known GenesUPK1A, UPK1A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644239
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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