A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6970472



Internal ID9728056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:59681471..59681769hg38UCSC Ensembl
Outerchr10:61441229..61441527hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737462
Supporting Variants
SamplesSSM028
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)essv6970472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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