A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698984



Internal ID10111305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103160700..103160867hg38UCSC Ensembl
Outerchr14:103627037..103627204hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749164, esv2749165, esv2749166
Supporting Variants
SamplesSSM038
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)essv6698984
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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