A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857629



Internal ID10255350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:36511700..36511762hg38UCSC Ensembl
Outerchr14:36980905..36980967hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748603, esv2748601
Supporting Variants
SamplesSSM087
Known GenesSFTA3
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)essv6857629
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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