A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6815558



Internal ID9870797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132259963..132260170hg38UCSC Ensembl
Outerchr12:132836502..132836756hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38208
hg19255
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746935, esv2746933
Supporting Variants
SamplesSSM077
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)essv6815558
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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