A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749175



Internal ID9983459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103700180..103705264hg38UCSC Ensembl
Outerchr14:104166517..104171601hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg385085
hg195085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940668
SamplesSSM022
Known GenesKLC1, XRCC3
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)esv2749175
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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