A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643451



Internal ID6683525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2994421..2997144hg38UCSC Ensembl
Innerchr19:2994475..2997091hg38UCSC Ensembl
Outerchr19:2994368..2997198hg38UCSC Ensembl
chr19:2994419..2997142hg19UCSC Ensembl
Innerchr19:2994473..2997089hg19UCSC Ensembl
Outerchr19:2994366..2997196hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382724
hg192724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15974446
SamplesHG01369
Known GenesTLE6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643451
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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