A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6771645



Internal ID9832227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127347330..127347892hg38UCSC Ensembl
Outerchr9:130109609..130110171hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739049
Supporting Variants
SamplesSSM065
Known GenesGARNL3
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)essv6771645
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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