A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13602184



Internal ID3604000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111562503..111563727hg38UCSC Ensembl
Innerchr9:111562503..111563727hg38UCSC Ensembl
Outerchr9:111562384..111564009hg38UCSC Ensembl
chr9:114324783..114326007hg19UCSC Ensembl
Innerchr9:114324783..114326007hg19UCSC Ensembl
Outerchr9:114324664..114326289hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381225
hg191225
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621491
Supporting Variants
SamplesHG01351
Known GenesPTGR1, ZNF483
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13602184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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