A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685332



Internal ID9993207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68512312..68512642hg38UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38n/a
hg19n/a
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738029, esv2738040
Supporting Variants
SamplesSSM005
Known GenesSLC25A16
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)essv6685332
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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