A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721258



Internal ID9955554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:189104889..189105643hg38UCSC Ensembl
Outerchr2:189969615..189970369hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38755
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929544
SamplesSSM020
Known GenesCOL5A2
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)esv2721258
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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