A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13560119



Internal ID3561935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93511221..93512413hg38UCSC Ensembl
Innerchr9:93511250..93512384hg38UCSC Ensembl
Outerchr9:93511192..93512442hg38UCSC Ensembl
chr9:96273503..96274695hg19UCSC Ensembl
Innerchr9:96273532..96274666hg19UCSC Ensembl
Outerchr9:96273474..96274724hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg381193
hg191193
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621103
Supporting Variants
SamplesHG01488
Known GenesFAM120A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13560119
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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