A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724548



Internal ID10308184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48506941..48507459hg38UCSC Ensembl
Outerchr22:48902753..48903271hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972108, essv6714091, essv6780685, essv6950366, essv6703695, essv6905972, essv6946308, essv6941594, essv6925537, essv6696853, essv6666705, essv6937499, essv6773289, essv6933124, essv6858972, essv6839813, essv6797273, essv6967685, essv6784800, essv6776785
SamplesSSM083, SSM071, SSM027, SSM024, SSM065, SSM087, SSM039, SSM013, SSM042, SSM023, SSM028, SSM021, SSM018, SSM029, SSM067, SSM066, SSM068, SSM020, SSM037, SSM022
Known GenesFAM19A5
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)esv2724548
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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