A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842544



Internal ID9895085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132303766..132305508hg38UCSC Ensembl
Outerchr12:132880352..132882094hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381743
hg191743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746949
Supporting Variants
SamplesSSM084
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)essv6842544
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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