A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749136



Internal ID10330106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101499100..101499762hg38UCSC Ensembl
Outerchr14:101965437..101966099hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38663
hg19663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6936487, essv6842761, essv6959831, essv6920530, essv6673697, essv6912920, essv6932194, essv6940666
SamplesSSM084, SSM021, SSM026, SSM017, SSM031, SSM020, SSM015, SSM022
Known Genes
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)esv2749136
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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