A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748273



Internal ID3296225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113314485..113314870hg38UCSC Ensembl
Outerchr13:113968800..113969185hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6977660, essv6945216
SamplesSSM029, SSM023
Known GenesLAMP1
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)esv2748273
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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