A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686401



Internal ID10103132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:46683024..46683315hg38UCSC Ensembl
Outerchr2:46910163..46910454hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720018
Supporting Variants
SamplesSSM035
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)essv6686401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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