A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002950



Internal ID2966436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17117789..17120015hg38UCSC Ensembl
Innerchr19:17117790..17120014hg38UCSC Ensembl
Outerchr19:17117788..17120016hg38UCSC Ensembl
chr19:17228599..17230825hg19UCSC Ensembl
Innerchr19:17228600..17230824hg19UCSC Ensembl
Outerchr19:17228598..17230826hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382227
hg192227
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643812
Supporting Variants
SamplesHG02620
Known GenesMYO9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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