A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940305



Internal ID9701236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8864316..8865439hg38UCSC Ensembl
Outerchr12:9016912..9018035hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745509
Supporting Variants
SamplesSSM022
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)essv6940305
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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