A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749150



Internal ID10330120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:102410286..102411779hg38UCSC Ensembl
Outerchr14:102876623..102878116hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381494
hg191494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735392, essv6905205, essv6857723, essv6977830, essv6953568
SamplesSSM087, SSM013, SSM029, SSM025, SSM049
Known GenesTECPR2
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)esv2749150
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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