A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6891367



Internal ID9939026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132212714..132212893hg38UCSC Ensembl
Outerchr12:132697259..132697438hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746925
Supporting Variants
SamplesSSM097
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)essv6891367
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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