A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6806247



Internal ID10207985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:31372236..31376164hg38UCSC Ensembl
Outerchr11:31393783..31397711hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg383929
hg193929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744311
Supporting Variants
SamplesSSM074
Known GenesDNAJC24
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)essv6806247
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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