A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714069



Internal ID10123163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44619567..44620060hg38UCSC Ensembl
Outerchr22:45015447..45015940hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38494
hg19494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724357, esv2724355
Supporting Variants
SamplesSSM042
Known GenesLINC00229
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)essv6714069
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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