A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827611



Internal ID10228331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77192800..77192949hg38UCSC Ensembl
Outerchr11:76903845..76903994hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744804, esv2744803, esv2744805
Supporting Variants
SamplesSSM080
Known GenesMYO7A
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)essv6827611
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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