A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724456



Internal ID9788807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1754839..1755160hg38UCSC Ensembl
Outerchr12:1864005..1864326hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745395
Supporting Variants
SamplesSSM045
Known GenesADIPOR2
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)essv6724456
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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