A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6912604



Internal ID9675120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29795132..29795289hg38UCSC Ensembl
Outerchr12:29948065..29948222hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745689, esv2745691, esv2745692
Supporting Variants
SamplesSSM015
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)essv6912604
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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