A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15968136



Internal ID5969952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1795052..1799572hg38UCSC Ensembl
Innerchr19:1795114..1799510hg38UCSC Ensembl
Outerchr19:1794990..1799634hg38UCSC Ensembl
chr19:1795051..1799571hg19UCSC Ensembl
Innerchr19:1795113..1799509hg19UCSC Ensembl
Outerchr19:1794989..1799633hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384521
hg194521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643408
Supporting Variants
SamplesHG02233
Known GenesATP8B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15968136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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