A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809650



Internal ID10211091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105652533..105751348hg38UCSC Ensembl
Outerchr14:106118870..106217685hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3898816
hg1998816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742000
Supporting Variants
SamplesSSM075
Known GenesELK2AP
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)essv6809650
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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