A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686943



Internal ID9647403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757681..765554hg38UCSC Ensembl
Outerchr12:866847..874720hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387874
hg197874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745368
Supporting Variants
SamplesSSM005
Known GenesWNK1
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)essv6686943
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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