A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862464



Internal ID10010425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128938599..128939880hg38UCSC Ensembl
Outerchr9:131700878..131702159hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381282
hg191282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739078
Supporting Variants
SamplesSSM011
Known GenesPHYHD1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6862464
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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