A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721366



Internal ID9955662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:201684908..201685742hg38UCSC Ensembl
Outerchr2:202549631..202550465hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730038, essv6819898, essv6938123, essv6667120, essv6951005, essv6929556, essv6704235, essv6883576, essv6946942, essv6718574, essv6766853, essv6693273, essv6788243, essv6722420, essv6926067, essv6781357, essv6722166, essv6813547, essv6953795, essv6902943, essv6968428, essv6847731, essv6726284, essv6875051, essv6785473, essv6789628, essv6942310, essv6679607, essv6742484, essv6797928, essv6829404, essv6896148, essv6750934, essv6892712, essv6689670, essv6872056, essv6844250, essv6769967, essv6745268, essv6880598, essv6777359, essv6821614, essv6825471, essv6910500, essv6920562, essv6683209, essv6714671, essv6955513, essv6864515, essv6962274, essv6933776, essv6793752, essv6922211, essv6669699, essv6917892, essv6759383, essv6753856, essv6973178, essv6672499, essv6711009
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM086, SSM036, SSM055, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM043, SSM089, SSM064, SSM031, SSM025, SSM072, SSM020, SSM071, SSM057, SSM024, SSM045, SSM067, SSM077, SSM005, SSM012, SSM085, SSM017, SSM009, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM069, SSM021, SSM037, SSM034, SSM046, SSM019, SSM023, SSM079, SSM068, SSM044, SSM004, SSM015, SSM026, SSM098, SSM018, SSM058, SSM081, SSM070, SSM080
Known GenesMPP4
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)esv2721366
Frequency
Sample Size96
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer