A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739460



Internal ID9973801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137644408..137645079hg38UCSC Ensembl
Outerchr9:140538860..140539531hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970365, essv6895698
SamplesSSM012, SSM028
Known GenesEHMT1
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)esv2739460
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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