A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6763410



Internal ID10169689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:42304035..42306267hg38UCSC Ensembl
Outerchr12:42697837..42700069hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382233
hg192233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745820
Supporting Variants
SamplesSSM062
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)essv6763410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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