A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749670



Internal ID9983954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48530164..48530382hg38UCSC Ensembl
Outerchr15:48822361..48822579hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691941, essv6695983, essv6776073
SamplesSSM036, SSM066, SSM037
Known GenesFBN1
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)esv2749670
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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