A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724334



Internal ID10307970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44112626..44114213hg38UCSC Ensembl
Outerchr22:44508506..44510093hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381588
hg191588
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666665, essv6950339, essv6877557, essv6839797, essv6707133, essv6921532, essv6954502, essv6797254, essv6816429, essv6898484, essv6954503, essv6905958, essv6714066
SamplesSSM083, SSM071, SSM024, SSM013, SSM042, SSM092, SSM029, SSM017, SSM040, SSM077, SSM025, SSM099
Known GenesPARVB
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)esv2724334
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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