A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739046



Internal ID9973387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:126661016..126661479hg38UCSC Ensembl
Outerchr9:129423295..129423758hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815092, essv6935649, essv6931378, essv6716340, essv6702004, essv6783092, essv6970323, essv6958519
SamplesSSM039, SSM028, SSM021, SSM026, SSM068, SSM020, SSM077, SSM043
Known GenesLMX1B
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)esv2739046
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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