A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6942339



Internal ID9989017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:48258060..48258411hg38UCSC Ensembl
Outerchr15:48550257..48550608hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749657
Supporting Variants
SamplesSSM003
Known GenesSLC12A1
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)essv6942339
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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