A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6835626



Internal ID10235358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14767536..14827043hg38UCSC Ensembl
Outerchr18:14767535..14827042hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859508
hg1959508
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716842
Supporting Variants
SamplesSSM082
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)essv6835626
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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