A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749002



Internal ID9983286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:89288575..89288752hg38UCSC Ensembl
Outerchr14:89754919..89755096hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772372, essv6673678
SamplesSSM065, SSM031
Known GenesFOXN3
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)esv2749002
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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