A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747423



Internal ID10328393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:52084597..52084969hg38UCSC Ensembl
Outerchr13:52658733..52659105hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977520, essv6924502, essv6772230
SamplesSSM065, SSM018, SSM029
Known GenesNEK5
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)esv2747423
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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