A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749073



Internal ID10330043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708990..96709568hg38UCSC Ensembl
Outerchr14:97175327..97175905hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38579
hg19579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945300, essv6678136, essv6828027, essv6688527, essv6900856, essv6867547, essv6835170, essv6728615, essv6870958, essv6823949, essv6851713, essv6891542, essv6940659, essv6691873
SamplesSSM100, SSM036, SSM046, SSM079, SSM097, SSM023, SSM090, SSM089, SSM035, SSM032, SSM086, SSM082, SSM080, SSM022
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)esv2749073
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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