A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915150



Internal ID9679525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149762403..149763144hg38UCSC Ensembl
Outerchr6:150083539..150084280hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732863, esv2732861
Supporting Variants
SamplesSSM016
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)essv6915150
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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