A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747977



Internal ID9982261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:108614397..108615128hg38UCSC Ensembl
Outerchr13:109266745..109267476hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38732
hg19732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6800427, essv6809558, essv6752721, essv6792054, essv6741272, essv6673501, essv6959621, essv6966143
SamplesSSM027, SSM075, SSM057, SSM026, SSM031, SSM072, SSM070, SSM052
Known GenesMYO16
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)esv2747977
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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