A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075046



Internal ID6076935
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644608
Supporting Variants
SamplesNA19057
Known GenesDHDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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