A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652011



Internal ID14754406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1049102..1050439hg38UCSC Ensembl
Innerchr19:1049102..1050439hg38UCSC Ensembl
Outerchr19:1049035..1050476hg38UCSC Ensembl
chr19:1049101..1050438hg19UCSC Ensembl
Innerchr19:1049101..1050438hg19UCSC Ensembl
Outerchr19:1049034..1050475hg19UCSC Ensembl
chr19:1000101..1001438hg18UCSC Ensembl
Innerchr19:1000101..1001438hg18UCSC Ensembl
Outerchr19:1000034..1001475hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381338
hg191338
hg181338
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3398695
Supporting Variants
SamplesNA19240
Known GenesABCA7
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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