A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16055752



Internal ID6057568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41287641..41289917hg38UCSC Ensembl
Innerchr19:41287657..41289902hg38UCSC Ensembl
Outerchr19:41287626..41289933hg38UCSC Ensembl
chr19:41793546..41795822hg19UCSC Ensembl
Innerchr19:41793562..41795807hg19UCSC Ensembl
Outerchr19:41793531..41795838hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382277
hg192277
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644376
Supporting Variants
SamplesNA20862
Known GenesHNRNPUL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16055752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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