A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000498



Internal ID6712640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127416340..127424387hg38UCSC Ensembl
Outerchr9:130178619..130186666hg19UCSC Ensembl
Outerchr9:129218440..129226487hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg388048
hg198048
hg188048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564321
SamplesHuRef
Known GenesZNF79
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000498
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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