A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643647



Internal ID6683718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10050592..10056925hg38UCSC Ensembl
Innerchr19:10050742..10056775hg38UCSC Ensembl
Outerchr19:10050442..10057075hg38UCSC Ensembl
chr19:10161268..10167601hg19UCSC Ensembl
Innerchr19:10161418..10167451hg19UCSC Ensembl
Outerchr19:10161118..10167751hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386334
hg196334
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990287, essv15990288, essv15990289, essv15990291, essv15990290
SamplesHG02979, HG03432, HG02805, HG02439, NA18908
Known GenesC3P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643647
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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