A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977107



Internal ID9734388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4701937..4702799hg38UCSC Ensembl
Outerchr12:4811103..4811965hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38863
hg19863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743409
Supporting Variants
SamplesSSM029
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)essv6977107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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