A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900644



Internal ID9947437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:23786576..23787135hg38UCSC Ensembl
Outerchr12:23939510..23940069hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38560
hg19560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745638
Supporting Variants
SamplesSSM100
Known GenesSOX5
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)essv6900644
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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