A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749223



Internal ID9983507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104585417..104586124hg38UCSC Ensembl
Outerchr14:105051754..105052461hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828039, essv6673706, essv6809638, essv6953576, essv6698985, essv6691883, essv6905212, essv6728624, essv6901631, essv6857728, essv6783885, essv6920536, essv6928202
SamplesSSM036, SSM075, SSM046, SSM087, SSM038, SSM013, SSM017, SSM019, SSM031, SSM068, SSM080, SSM025, SSM012
Known GenesC14orf180
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)esv2749223
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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