A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15988797



Internal ID5990613
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643613
Supporting Variants
SamplesHG00619
Known GenesNDUFA7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15988797
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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