A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747346



Internal ID9981630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45381552..45382129hg38UCSC Ensembl
Outerchr13:45955687..45956264hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38578
hg19578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882439, essv6691733, essv6787911, essv6827879, essv6831458
SamplesSSM036, SSM069, SSM094, SSM081, SSM080
Known GenesTPT1-AS1
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)esv2747346
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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