A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696818



Internal ID10109795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38086144..38086579hg38UCSC Ensembl
Outerchr22:38482151..38482586hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724223
Supporting Variants
SamplesSSM037
Known GenesBAIAP2L2
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)essv6696818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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