A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998446



Internal ID6734378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:133660557..133670710hg38UCSC Ensembl
Outerchr9:136525679..136535832hg19UCSC Ensembl
Outerchr9:135515500..135525653hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3810154
hg1910154
hg1810154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564683
SamplesHuRef
Known GenesSARDH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998446
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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