A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720847



Internal ID10304483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:133988065..133996521hg38UCSC Ensembl
Outerchr2:134745636..134754092hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg388457
hg198457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789584, essv6726235
SamplesSSM046, SSM070
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)esv2720847
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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