A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744172



Internal ID9978456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18476928..18476987hg38UCSC Ensembl
Outerchr11:18498475..18498534hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965515
SamplesSSM027
Known GenesLDHAL6A
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)esv2744172
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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