A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6932201



Internal ID9692360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104884621..104884917hg38UCSC Ensembl
Outerchr14:105350958..105351254hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749248
Supporting Variants
SamplesSSM020
Known GenesCEP170B
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)essv6932201
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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