A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6920311



Internal ID9683870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132298778..132299860hg38UCSC Ensembl
Outerchr12:132875364..132876446hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381083
hg191083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746945
Supporting Variants
SamplesSSM017
Known GenesGALNT9
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)essv6920311
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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