A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739049



Internal ID9973390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127347329..127347908hg38UCSC Ensembl
Outerchr9:130109608..130110187hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38580
hg19580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787322, essv6771645
SamplesSSM065, SSM069
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)esv2739049
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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