A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749037



Internal ID10330007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93893731..93894366hg38UCSC Ensembl
Outerchr14:94360077..94360712hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857705, essv6909176, essv6977808, essv6924646, essv6772377, essv6702772, essv6673682, essv6842750
SamplesSSM065, SSM087, SSM039, SSM084, SSM018, SSM029, SSM031, SSM014
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)esv2749037
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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