A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13511548



Internal ID1962403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69690637..69694193hg38UCSC Ensembl
Innerchr9:69690637..69694193hg38UCSC Ensembl
Outerchr9:69690353..69694457hg38UCSC Ensembl
chr9:72305553..72309109hg19UCSC Ensembl
Innerchr9:72305553..72309109hg19UCSC Ensembl
Outerchr9:72305269..72309373hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620565
Supporting Variants
SamplesHG01813
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13511548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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