A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686447



Internal ID9756404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105054647..105054917hg38UCSC Ensembl
Outerchr2:105671105..105671375hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720474, esv2720476
Supporting Variants
SamplesSSM035
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)essv6686447
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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