A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727342



Internal ID10310978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:31056315..31056604hg38UCSC Ensembl
Outerchr4:31057937..31058226hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825797, essv6821907
SamplesSSM079, SSM080
Known GenesPCDH7
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)esv2727342
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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