A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643671



Internal ID6683742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11406742..11407943hg38UCSC Ensembl
Innerchr19:11406742..11407943hg38UCSC Ensembl
Outerchr19:11406491..11408215hg38UCSC Ensembl
chr19:11517418..11518619hg19UCSC Ensembl
Innerchr19:11517418..11518619hg19UCSC Ensembl
Outerchr19:11517167..11518891hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15990785, essv15990790, essv15990786, essv15990788, essv15990789, essv15990787
SamplesNA12342, HG00310, HG00102, HG01137, NA12878, NA19649
Known GenesRGL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643671
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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