A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13416198



Internal ID3418014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20305291..20349430hg38UCSC Ensembl
Innerchr9:20305315..20349406hg38UCSC Ensembl
Outerchr9:20305267..20349454hg38UCSC Ensembl
chr9:20305289..20349428hg19UCSC Ensembl
Innerchr9:20305313..20349404hg19UCSC Ensembl
Outerchr9:20305265..20349452hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3844140
hg1944140
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619929
Supporting Variants
SamplesHG00240
Known GenesMLLT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13416198
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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