A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13579213



Internal ID660091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:99019438..99022092hg38UCSC Ensembl
Innerchr9:99019452..99022078hg38UCSC Ensembl
Outerchr9:99019424..99022106hg38UCSC Ensembl
chr9:101781720..101784374hg19UCSC Ensembl
Innerchr9:101781734..101784360hg19UCSC Ensembl
Outerchr9:101781706..101784388hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg382655
hg192655
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621218
Supporting Variants
SamplesHG00306
Known GenesCOL15A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13579213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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