A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748451



Internal ID10329421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21183247..21183566hg38UCSC Ensembl
Outerchr14:21651406..21651725hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870899, essv6732375, essv6783822, essv6882507, essv6728567, essv6857601, essv6888194, essv6678061, essv6867474, essv6851604, essv6862680, essv6835108, essv6717053, essv6838863, essv6809571, essv6800481
SamplesSSM083, SSM075, SSM046, SSM087, SSM088, SSM090, SSM047, SSM096, SSM089, SSM094, SSM032, SSM086, SSM068, SSM072, SSM082, SSM043
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)esv2748451
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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