A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13527006



Internal ID1363015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:75521866..75522680hg38UCSC Ensembl
Innerchr9:75521903..75522644hg38UCSC Ensembl
Outerchr9:75521830..75522717hg38UCSC Ensembl
chr9:78136782..78137596hg19UCSC Ensembl
Innerchr9:78136819..78137560hg19UCSC Ensembl
Outerchr9:78136746..78137633hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3620726
Supporting Variants
SamplesHG01204
Known GenesMIR548H3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13527006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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