A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968151



Internal ID5969967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1797503..1799741hg38UCSC Ensembl
Innerchr19:1797512..1799732hg38UCSC Ensembl
Outerchr19:1797494..1799750hg38UCSC Ensembl
chr19:1797502..1799740hg19UCSC Ensembl
Innerchr19:1797511..1799731hg19UCSC Ensembl
Outerchr19:1797493..1799749hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382239
hg192239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643409
Supporting Variants
SamplesNA19375
Known GenesATP8B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968151
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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