A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745690



Internal ID9979974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29789242..29789387hg38UCSC Ensembl
Outerchr12:29942175..29942320hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959265
SamplesSSM026
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)esv2745690
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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