A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13602241



Internal ID3604057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111570881..111571643hg38UCSC Ensembl
Innerchr9:111570892..111571632hg38UCSC Ensembl
Outerchr9:111570870..111571654hg38UCSC Ensembl
chr9:114333161..114333923hg19UCSC Ensembl
Innerchr9:114333172..114333912hg19UCSC Ensembl
Outerchr9:114333150..114333934hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38763
hg19763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621492
Supporting Variants
SamplesHG00598
Known GenesPTGR1, ZNF483
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13602241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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