A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002710



Internal ID1559690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16124150..16124746hg38UCSC Ensembl
Innerchr19:16124150..16124746hg38UCSC Ensembl
Outerchr19:16123926..16125013hg38UCSC Ensembl
chr19:16234960..16235556hg19UCSC Ensembl
Innerchr19:16234960..16235556hg19UCSC Ensembl
Outerchr19:16234736..16235823hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38597
hg19597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643788
Supporting Variants
SamplesHG01441
Known GenesRAB8A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002710
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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