A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672671



Internal ID9744069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59681472..59681719hg38UCSC Ensembl
Outerchr10:61441230..61441477hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737462
Supporting Variants
SamplesSSM031
Known GenesSLC16A9
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)essv6672671
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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