A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747912



Internal ID10328882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:103222911..103223561hg38UCSC Ensembl
Outerchr13:103875261..103875911hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38651
hg19651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867416, essv6966130, essv6912808, essv6746999, essv6741263, essv6668319, essv6971044, essv6772268, essv6744173, essv6732324
SamplesSSM027, SSM065, SSM028, SSM047, SSM089, SSM015, SSM053, SSM055, SSM052, SSM030
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)esv2747912
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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