A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6702008



Internal ID10116601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127464191..127464545hg38UCSC Ensembl
Outerchr9:130226470..130226824hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739052
Supporting Variants
SamplesSSM039
Known GenesLRSAM1
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)essv6702008
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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