A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857191



Internal ID10254955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:26150524..26150637hg38UCSC Ensembl
Outerchr12:26303457..26303570hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745653, esv2745654
Supporting Variants
SamplesSSM087
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)essv6857191
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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