A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726463



Internal ID10310099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195394908..195395162hg38UCSC Ensembl
Outerchr3:195115637..195115891hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6697485
SamplesSSM038
Known GenesACAP2
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)esv2726463
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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