A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732864



Internal ID9967186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149762455..149762712hg38UCSC Ensembl
Outerchr6:150083591..150083848hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929651
SamplesSSM003
Known GenesPCMT1
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)esv2732864
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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