A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680194



Internal ID9749786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41411884..41412095hg38UCSC Ensembl
Outerchr5:41411986..41412197hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730124, esv2730123
Supporting Variants
SamplesSSM033
Known GenesPLCXD3
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)essv6680194
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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