A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716051



Internal ID10299687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110569265..110570573hg38UCSC Ensembl
Outerchr1:111111887..111113195hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933385, essv6954877, essv6785388, essv6917519, essv6747853, essv6840047, essv6968014, essv6719464, essv6714320, essv6921814, essv6813234, essv6789235, essv6745011, essv6769606, essv6950638, essv6937928, essv6853361, essv6961693, essv6710662, essv6736050, essv6972505, essv6816691, essv6756615, essv6738888, essv6898681, essv6764224, essv6925769, essv6864062, essv6753571, essv6750673, essv6742211, essv6917407, essv6895910, essv6749331, essv6829084, essv6910135, essv6843953, essv6777009
SamplesSSM100, SSM059, SSM008, SSM027, SSM065, SSM087, SSM009, SSM050, SSM042, SSM057, SSM058, SSM028, SSM084, SSM021, SSM018, SSM029, SSM026, SSM089, SSM017, SSM019, SSM003, SSM067, SSM001, SSM085, SSM081, SSM007, SSM015, SSM078, SSM053, SSM077, SSM055, SSM070, SSM025, SSM099, SSM043, SSM052, SSM056, SSM063
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)esv2716051
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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