A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749106



Internal ID9983390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100262458..100276482hg38UCSC Ensembl
Outerchr14:100728795..100742819hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3814025
hg1914025
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6842757
SamplesSSM084
Known GenesYY1
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)esv2749106
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer