A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681544



Internal ID9751001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864312..8865448hg38UCSC Ensembl
Outerchr12:9016908..9018044hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381137
hg191137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745509
Supporting Variants
SamplesSSM033
Known GenesA2ML1
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)essv6681544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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