A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759323



Internal ID9819986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105054360..105054921hg38UCSC Ensembl
Outerchr2:105670818..105671379hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38562
hg19562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720474
Supporting Variants
SamplesSSM061
Known GenesMRPS9
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)essv6759323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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