A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720527



Internal ID10304163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112139212..112140279hg38UCSC Ensembl
Outerchr2:112896789..112897856hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748055, essv6922115, essv6797837
SamplesSSM018, SSM072, SSM056
Known GenesFBLN7
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)esv2720527
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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