A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6862779



Internal ID10257687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104097948..104098028hg38UCSC Ensembl
Outerchr14:104564285..104564365hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749182, esv2749183, esv2749181
Supporting Variants
SamplesSSM088
Known GenesASPG
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)essv6862779
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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