A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724380



Internal ID10308016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44889619..44890547hg38UCSC Ensembl
Outerchr22:45285499..45286427hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38929
hg19929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6921537, essv6784779, essv6941575, essv6703670, essv6824790, essv6769377, essv6689135, essv6961214, essv6797260, essv6725653, essv6793095, essv6807250, essv6733334, essv6852976, essv6707135, essv6913815, essv6773274, essv6843714, essv6832412, essv6717993, essv6788948, essv6835997, essv6668813, essv6714073
SamplesSSM071, SSM045, SSM064, SSM079, SSM065, SSM039, SSM074, SSM042, SSM084, SSM047, SSM069, SSM026, SSM017, SSM035, SSM086, SSM068, SSM081, SSM040, SSM082, SSM015, SSM022, SSM070, SSM043, SSM030
Known GenesPHF21B
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)esv2724380
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer