A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719728



Internal ID10303364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:15773913..15777702hg38UCSC Ensembl
Outerchr2:15914037..15917826hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383790
hg193790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683060, essv6675477
SamplesSSM032, SSM034
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)esv2719728
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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