A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747957



Internal ID10328927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106570357..106570827hg38UCSC Ensembl
Outerchr13:107222705..107223175hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894841, essv6806541, essv6685272, essv6688450, essv6888153, essv6873832
SamplesSSM074, SSM096, SSM035, SSM091, SSM034, SSM098
Known Genes
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)esv2747957
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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