A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643613



Internal ID6683684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8310618..8314803hg38UCSC Ensembl
Innerchr19:8310618..8314803hg38UCSC Ensembl
Outerchr19:8310533..8314883hg38UCSC Ensembl
chr19:8375502..8379687hg19UCSC Ensembl
Innerchr19:8375502..8379687hg19UCSC Ensembl
Outerchr19:8375417..8379767hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384186
hg194186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15988796, essv15988797
SamplesHG00589, HG00619
Known GenesNDUFA7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643613
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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