A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6946942



Internal ID9710374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201685066..201685482hg38UCSC Ensembl
Outerchr2:202549789..202550205hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721366
Supporting Variants
SamplesSSM024
Known GenesMPP4
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)essv6946942
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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