A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2719918

Internal ID9954213
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323843..180324179hg38UCSC Ensembl
Outerchr1:180292978..180293314hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2719918
Sample Size96
Observed Gain0
Observed Loss61
Observed Complex0

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