A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719833



Internal ID10303469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:27101120..27101757hg38UCSC Ensembl
Outerchr2:27323988..27324625hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829260, essv6789474, essv6925947, essv6910349, essv6722279, essv6707524, essv6937975, essv6877859, essv6886198, essv6751054, essv6769830, essv6699927, essv6892583, essv6853658, essv6968266, essv6844115, essv6785309, essv6879253, essv6693100, essv6679464, essv6950847, essv6946779, essv6929389, essv6902800, essv6797762, essv6917732, essv6801830, essv6675483, essv6933618, essv6718443, essv6726124, essv6942125, essv6781186, essv6832848, essv6922029, essv6919229, essv6962002, essv6793602, essv6972861, essv6710861, essv6825290, essv6773716, essv6714537, essv6669425, essv6914222, essv6689525, essv6955236, essv6777217, essv6729903, essv6847471, essv6871927
SamplesSSM036, SSM008, SSM071, SSM027, SSM024, SSM045, SSM046, SSM065, SSM087, SSM039, SSM013, SSM073, SSM093, SSM042, SSM041, SSM023, SSM028, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM020, SSM015, SSM016, SSM080, SSM037, SSM022, SSM091, SSM070, SSM025, SSM043, SSM098, SSM012
Known GenesCGREF1
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)esv2719833
Frequency
Sample Size96
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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