A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6753123



Internal ID10161040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:39323381..39324167hg38UCSC Ensembl
Outerchr18:36903345..36904131hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716985
Supporting Variants
SamplesSSM057
Known GenesLINC00669
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)essv6753123
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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