A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6885592



Internal ID10280339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14767529..14827126hg38UCSC Ensembl
Outerchr18:14767528..14827125hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859598
hg1959598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716842
Supporting Variants
SamplesSSM095
Known GenesANKRD30B
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)essv6885592
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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