A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749671



Internal ID9983955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:49252661..49255685hg38UCSC Ensembl
Outerchr15:49544858..49547882hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383025
hg193025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665293, essv6953665, essv6867672, essv6755878
SamplesSSM058, SSM029, SSM089, SSM025
Known GenesGALK2
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)esv2749671
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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