A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748487



Internal ID10329457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23956204..23995022hg38UCSC Ensembl
Outerchr14:24425413..24464231hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3838819
hg1938819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882515, essv6758397, essv6867482, essv6761144, essv6820011, essv6741297, essv6774487, essv6749862, essv6763537, essv6740220, essv6755762, essv6936424
SamplesSSM059, SSM008, SSM058, SSM021, SSM061, SSM062, SSM089, SSM094, SSM007, SSM078, SSM052, SSM056
Known GenesDHRS4, DHRS4L2
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)esv2748487
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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