A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724743



Internal ID10308379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50060153..50061033hg38UCSC Ensembl
Outerchr22:50498582..50499462hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780700, essv6696872, essv6729471, essv6668828, essv6666732, essv6714097, essv6824819, essv6773313, essv6961268, essv6668266, essv6783365, essv6836022, essv6788980, essv6950380, essv6902393, essv6937516, essv6941616, essv6948984, essv6733361, essv6804312, essv6725686, essv6839825, essv6858994, essv6718131
SamplesSSM008, SSM083, SSM024, SSM045, SSM046, SSM079, SSM065, SSM087, SSM073, SSM042, SSM021, SSM047, SSM069, SSM029, SSM026, SSM003, SSM067, SSM006, SSM082, SSM037, SSM022, SSM004, SSM030, SSM012
Known GenesMLC1
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)esv2724743
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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