A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748279



Internal ID10329249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113336670..113336767hg38UCSC Ensembl
Outerchr13:113990985..113991082hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867459, essv6909103
SamplesSSM089, SSM014
Known GenesGRTP1
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)esv2748279
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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