A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965799



Internal ID9723361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51197120..51197173hg38UCSC Ensembl
Outerchr12:51590903..51590956hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745877, esv2745879
Supporting Variants
SamplesSSM027
Known GenesPOU6F1
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)essv6965799
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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