A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6827758



Internal ID10228464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95194613..95195852hg38UCSC Ensembl
Outerchr12:95588389..95589628hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746232
Supporting Variants
SamplesSSM080
Known GenesFGD6
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)essv6827758
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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