A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6871994



Internal ID10268277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112346802..112347218hg38UCSC Ensembl
Outerchr2:113104379..113104795hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720532, esv2720531
Supporting Variants
SamplesSSM091
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)essv6871994
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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