A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746328



Internal ID10327298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105496910..105497408hg38UCSC Ensembl
Outerchr12:105890688..105891186hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6827775, essv6823691, essv6709555, essv6732189, essv6970866, essv6779520, essv6691662, essv6842491, essv6959364, essv6702518, essv6787818, essv6845997
SamplesSSM036, SSM079, SSM039, SSM041, SSM028, SSM084, SSM047, SSM069, SSM026, SSM067, SSM085, SSM080
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)esv2746328
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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