A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6856531



Internal ID10254361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:121879766..121879870hg38UCSC Ensembl
Outerchr9:124642045..124642149hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739010, esv2739008, esv2739009
Supporting Variants
SamplesSSM087
Known GenesTTLL11
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)essv6856531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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