A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698490



Internal ID9766335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134524615..134524920hg38UCSC Ensembl
Outerchr9:137416461..137416766hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739226, esv2739224, esv2739138, esv2739223
Supporting Variants
SamplesSSM038
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)essv6698490
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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