A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749036



Internal ID10330006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93768806..93768983hg38UCSC Ensembl
Outerchr14:94235152..94235329hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6685367, essv6681875, essv6909175, essv6851706, essv6691871, essv6673681, essv6959812, essv6977807, essv6698976, essv6857704, essv6717106, essv6971169
SamplesSSM036, SSM087, SSM038, SSM028, SSM029, SSM026, SSM031, SSM014, SSM086, SSM033, SSM034, SSM043
Known GenesPRIMA1
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)esv2749036
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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