A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724529



Internal ID10308165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:48319742..48320590hg38UCSC Ensembl
Outerchr22:48715554..48716402hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38849
hg19849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780682, essv6946304, essv6776783, essv6921558, essv6972107, essv6675005, essv6877575, essv6852998, essv6773285, essv6928921, essv6682691, essv6744840, essv6714088, essv6836010, essv6692603, essv6950364, essv6815798, essv6729457, essv6895705, essv6793114, essv6902379, essv6718013, essv6937497, essv6874590, essv6801472, essv6797271, essv6788960, essv6783221, essv6666702, essv6954531, essv6905970, essv6892192, essv6703693, essv6824802, essv6843731, essv6707146, essv6816444, essv6725667, essv6769390, essv6913834, essv6839810, essv6733350, essv6846855, essv6832426, essv6933121, essv6925534, essv6961236, essv6784794, essv6696850, essv6742024, essv6917268
SamplesSSM036, SSM008, SSM083, SSM071, SSM024, SSM045, SSM046, SSM064, SSM079, SSM065, SSM097, SSM039, SSM013, SSM009, SSM042, SSM023, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM031, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM037, SSM077, SSM091, SSM070, SSM025, SSM043, SSM052, SSM098, SSM012
Known Genes
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)esv2724529
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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