A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6864532



Internal ID9914875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:217959420..217959478hg38UCSC Ensembl
Outerchr2:218824143..218824201hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721474, esv2721475
Supporting Variants
SamplesSSM089
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)essv6864532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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