A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746205



Internal ID10327175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:92728086..92728379hg38UCSC Ensembl
Outerchr12:93121862..93122155hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6862452, essv6834929, essv6953278, essv6940384, essv6851269
SamplesSSM088, SSM086, SSM082, SSM022, SSM025
Known Genes
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)esv2746205
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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