A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749015



Internal ID9983299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91292980..91293759hg38UCSC Ensembl
Outerchr14:91759324..91760103hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6949403, essv6828024, essv6792174
SamplesSSM024, SSM070, SSM080
Known GenesCCDC88C
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)esv2749015
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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