A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748466



Internal ID9982750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22774815..22775359hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg19545
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909112, essv6838864, essv6815670, essv6720945, essv6732379, essv6796282, essv6977692, essv6905131, essv6775939, essv6835112, essv6897824, essv6713219, essv6737042, essv6761141, essv6882511, essv6916345
SamplesSSM083, SSM071, SSM013, SSM042, SSM047, SSM061, SSM029, SSM094, SSM044, SSM001, SSM014, SSM066, SSM082, SSM016, SSM077, SSM099
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)esv2748466
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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