A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734299



Internal ID3284795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:39418849..39419312hg38UCSC Ensembl
Outerchr7:39458448..39458911hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6760223
SamplesSSM061
Known GenesPOU6F2
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)esv2734299
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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