A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644608



Internal ID6684674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48931122..48935228hg38UCSC Ensembl
Innerchr19:48931122..48935228hg38UCSC Ensembl
Outerchr19:48930622..48935728hg38UCSC Ensembl
chr19:49434379..49438485hg19UCSC Ensembl
Innerchr19:49434379..49438485hg19UCSC Ensembl
Outerchr19:49433879..49438985hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384107
hg194107
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16075046
SamplesNA19057
Known GenesDHDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644608
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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