A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720146



Internal ID9954442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63886545..63887384hg38UCSC Ensembl
Outerchr2:64113679..64114518hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38840
hg19840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793633
SamplesSSM071
Known GenesUGP2
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)esv2720146
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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