A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6760937



Internal ID9821438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1371361..1372012hg38UCSC Ensembl
Outerchr12:1480527..1481178hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38652
hg19652
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745391
Supporting Variants
SamplesSSM061
Known GenesERC1
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)essv6760937
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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