A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724123



Internal ID9958424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29299626..29300280hg38UCSC Ensembl
Outerchr22:29695616..29696270hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801434, essv6694687, essv6915507, essv6917232, essv6699466, essv6696807, essv6928891, essv6782876, essv6941548, essv6733298, essv6954477, essv6692568, essv6686001, essv6858912, essv6714048, essv6773240, essv6842598, essv6961178, essv6946258, essv6913786, essv6852937, essv6948596, essv6925491, essv6741990, essv6793064, essv6950315, essv6902337, essv6937448, essv6824762, essv6933075, essv6667799, essv6874562, essv6832390, essv6710420, essv6707117, essv6717962, essv6883136, essv6815499
SamplesSSM010, SSM065, SSM022, SSM086, SSM036, SSM091, SSM042, SSM040, SSM043, SSM025, SSM072, SSM020, SSM016, SSM024, SSM094, SSM041, SSM005, SSM012, SSM009, SSM003, SSM047, SSM021, SSM002, SSM037, SSM034, SSM087, SSM038, SSM019, SSM023, SSM079, SSM052, SSM004, SSM015, SSM026, SSM008, SSM018, SSM081, SSM070
Known GenesEWSR1
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)esv2724123
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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