A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643408



Internal ID6683483
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15968136
SamplesHG02233
Known GenesATP8B3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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