A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748461



Internal ID9982745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21602517..21634679hg38UCSC Ensembl
Outerchr14:22070668..22102835hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3832163
hg1932168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876859, essv6920465, essv6857605, essv6712587
SamplesSSM087, SSM092, SSM017, SSM006
Known GenesOR10G2
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)esv2748461
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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