A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6770098



Internal ID9654207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1394822..1395000hg38UCSC Ensembl
Outerchr11:1416052..1416230hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743914, esv2743878, esv2743913
Supporting Variants
SamplesSSM008
Known GenesBRSK2
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)essv6770098
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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