A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621866



Internal ID6662042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130695968..131205700hg38UCSC Ensembl
Innerchr9:130696118..131205550hg38UCSC Ensembl
Outerchr9:130695818..131205850hg38UCSC Ensembl
chr9:133571355..134081087hg19UCSC Ensembl
Innerchr9:133571505..134080937hg19UCSC Ensembl
Outerchr9:133571205..134081237hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg38509733
hg19509733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13630360
SamplesHG01602
Known GenesABL1, AIF1L, EXOSC2, FIBCD1, LAMC3, NUP214, QRFP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621866
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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