A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644620



Internal ID6684686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49287578..49297780hg38UCSC Ensembl
Innerchr19:49287622..49297737hg38UCSC Ensembl
Outerchr19:49287535..49297824hg38UCSC Ensembl
chr19:49790835..49801037hg19UCSC Ensembl
Innerchr19:49790879..49800994hg19UCSC Ensembl
Outerchr19:49790792..49801081hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3810203
hg1910203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075210
SamplesNA18572
Known GenesSLC6A16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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