A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748906



Internal ID9983190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77828809..77830743hg38UCSC Ensembl
Outerchr14:78295152..78297086hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835158, essv6747074, essv6691857, essv6681867
SamplesSSM082, SSM036, SSM055, SSM033
Known GenesADCK1
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)esv2748906
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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