A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747609



Internal ID10328579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:71553196..71553310hg38UCSC Ensembl
Outerchr13:72127328..72127442hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6851477, essv6862595, essv6673424, essv6909046, essv6977547
SamplesSSM088, SSM029, SSM031, SSM014, SSM086
Known GenesDACH1
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)esv2747609
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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