A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721256



Internal ID9955552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980333..188980492hg38UCSC Ensembl
Outerchr2:189845059..189845218hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906560, essv6714663
SamplesSSM043, SSM014
Known GenesCOL3A1
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)esv2721256
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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