A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6711025



Internal ID10123419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224330206..224331319hg38UCSC Ensembl
Outerchr2:225194923..225196036hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381114
hg191114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721532
Supporting Variants
SamplesSSM042
Known Genes
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)essv6711025
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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