A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724123



Internal ID5071413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29695616..29696270hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6801434, essv6694687, essv6915507, essv6917232, essv6699466, essv6928891, essv6696807, 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
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2724123
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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