A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13630364



Internal ID6082367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130718137..130727740hg38UCSC Ensembl
Innerchr9:130718637..130727240hg38UCSC Ensembl
Outerchr9:130717137..130728740hg38UCSC Ensembl
chr9:133593524..133603127hg19UCSC Ensembl
Innerchr9:133594024..133602627hg19UCSC Ensembl
Outerchr9:133592524..133604127hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg389604
hg199604
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621867
Supporting Variants
SamplesNA19467
Known GenesABL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13630364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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