A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731602



Internal ID3282098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:13231060..13231426hg38UCSC Ensembl
Outerchr6:13231292..13231658hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38367
hg19367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6974648, essv6778093, essv6918659, essv6808314, essv6677555, essv6855114
SamplesSSM067, SSM005, SSM017, SSM029, SSM087, SSM075
Known GenesPHACTR1
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)esv2731602
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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