A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13579183



Internal ID3580999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98651384..99637088hg38UCSC Ensembl
Innerchr9:98651534..99636938hg38UCSC Ensembl
Outerchr9:98651234..99637238hg38UCSC Ensembl
chr9:101413666..102399370hg19UCSC Ensembl
Innerchr9:101413816..102399220hg19UCSC Ensembl
Outerchr9:101413516..102399520hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38985705
hg19985705
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621214
Supporting Variants
SamplesNA19917
Known GenesALG2, ANKS6, COL15A1, GABBR2, GALNT12, NAMA, SEC61B, TGFBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13579183
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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