A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6890934



Internal ID9938635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134524599..134524870hg38UCSC Ensembl
Outerchr9:137416445..137416716hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739226, esv2739224, esv2739138, esv2739223
Supporting Variants
SamplesSSM097
Known Genes
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)essv6890934
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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