A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746232



Internal ID10327202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95194613..95195858hg38UCSC Ensembl
Outerchr12:95588389..95589634hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381246
hg191246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870771, essv6842480, essv6920239, essv6827758, essv6728383
SamplesSSM046, SSM084, SSM090, SSM017, SSM080
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)esv2746232
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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