A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6685725



Internal ID10098823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:45681057..45681358hg38UCSC Ensembl
Outerchr18:43261022..43261323hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717025
Supporting Variants
SamplesSSM034
Known GenesSLC14A2
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)essv6685725
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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