A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700182



Internal ID9767843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:9994214..10047898hg38UCSC Ensembl
Outerchr3:10035898..10089582hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg3853685
hg1953685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724891
Supporting Variants
SamplesSSM039
Known GenesCIDECP, EMC3-AS1, FANCD2, LOC401052
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)essv6700182
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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