A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6796136



Internal ID9852700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132303493..132305288hg38UCSC Ensembl
Outerchr12:132880079..132881874hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746949, esv2746947
Supporting Variants
SamplesSSM071
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)essv6796136
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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