A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749068



Internal ID10330038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708837..96709045hg38UCSC Ensembl
Outerchr14:97175174..97175382hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv271e201
Supporting Variantsessv6720997, essv6713260, essv6800555, essv6724782
SamplesSSM045, SSM042, SSM044, SSM072
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)esv2749068
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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