A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724340



Internal ID10307976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44154498..44155335hg38UCSC Ensembl
Outerchr22:44550378..44551215hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793091, essv6941568, essv6948762, essv6753396, essv6898485, essv6692584, essv6694876, essv6883150, essv6967650, essv6877559, essv6783055, essv6933100, essv6666668, essv6852969, essv6682669, essv6750490
SamplesSSM036, SSM008, SSM027, SSM057, SSM092, SSM029, SSM094, SSM003, SSM086, SSM033, SSM020, SSM005, SSM022, SSM070, SSM099, SSM056
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)esv2724340
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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