A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720776



Internal ID9955072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130822241..130822414hg38UCSC Ensembl
Outerchr2:131579814..131579987hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955403
SamplesSSM026
Known Genes
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)esv2720776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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