A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6812783



Internal ID10213110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35082002..35082294hg38UCSC Ensembl
Outerchr18:32661966..32662258hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716954
Supporting Variants
SamplesSSM076
Known GenesMAPRE2
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)essv6812783
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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