A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779776



Internal ID9838593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105437078..105437519hg38UCSC Ensembl
Outerchr14:105903415..105903856hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38442
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749293
Supporting Variants
SamplesSSM067
Known GenesMTA1
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)essv6779776
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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