A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719918



Internal ID9954213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323843..180324179hg38UCSC Ensembl
Outerchr1:180292978..180293314hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692911, essv6877920, essv6843995, essv6910182, essv6961763, essv6699739, essv6669163, essv6972593, essv6871817, essv6946616, essv6722117, essv6785125, essv6675330, essv6898721, essv6968075, essv6906235, essv6777059, essv6895953, essv6682940, essv6670266, essv6886081, essv6951362, essv6954956, essv6781013, essv6829128, essv6845043, essv6725986, essv6710713, essv6793434, essv6937811, essv6847230, essv6941934, essv6686259, essv6729750, essv6697083, essv6892441, essv6864122, essv6789287, essv6877761, essv6821314, essv6718280, essv6813280, essv6807490, essv6832708, essv6853437, essv6880532, essv6689372, essv6836310, essv6804517, essv6773569, essv6797586, essv6816753, essv6707367, essv6859350, essv6889131, essv6883349, essv6825118, essv6817821, essv6703964, essv6810442, essv6902660
SamplesSSM010, SSM022, SSM027, SSM013, SSM082, SSM086, SSM036, SSM091, SSM099, SSM042, SSM040, SSM078, SSM088, SSM089, SSM031, SSM035, SSM072, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM097, SSM041, SSM077, SSM005, SSM012, SSM093, SSM100, SSM085, SSM011, SSM066, SSM028, SSM029, SSM095, SSM047, SSM069, SSM037, SSM034, SSM087, SSM038, SSM046, SSM096, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM098, SSM076, SSM081, SSM070, SSM080
Known GenesACBD6
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)esv2719918
Frequency
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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