A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724343



Internal ID10307979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44167454..44167975hg38UCSC Ensembl
Outerchr22:44563334..44563855hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6824785, essv6852970, essv6689133, essv6905959, essv6733327, essv6783066, essv6972085, essv6797255, essv6714067, essv6913811, essv6933101, essv6784772, essv6941569, essv6875342
SamplesSSM008, SSM071, SSM011, SSM079, SSM013, SSM042, SSM028, SSM047, SSM035, SSM086, SSM068, SSM020, SSM015, SSM022
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)esv2724343
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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