A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721006



Internal ID10304642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196743570..196852910hg38UCSC Ensembl
Outerchr1:196712700..196822040hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38109341
hg19109341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e201
Supporting Variantsessv6686275, essv6941953, essv6844002, essv6929209, essv6785138, essv6747904, essv6742261, essv6686274, essv6950699, essv6797603, essv6707385, essv6917581, essv6817876, essv6961780, essv6714387, essv6745058, essv6738948, essv6954977, essv6874824, essv6686277, essv6954976, essv6892455, essv6821323, essv6707383, essv6941955, essv6817887, essv6781025, essv6729761, essv6669190, essv6722134, essv6950698, essv6703979, essv6946627, essv6844003, essv6968088, essv6773583, essv6666981, essv6750721, essv6816767, essv6714386, essv6801738, essv6696721, essv6753625, essv6675345, essv6836321, essv6844004, essv6749843, essv6950697, essv6941954, essv6946628, essv6738949, essv6898730, essv6895964, essv6889142, essv6886092, essv6797604, essv6961781, essv6921883, essv6917930, essv6769663, essv6764270, essv6853455, essv6864139, essv6777069, essv6769662, essv6877772, essv6810598, essv6933452, essv6886091, essv6738947, essv6670820, essv6692925, essv6868833, essv6917580, essv6878020, essv6813293, essv6807497, essv6697092, essv6921882, essv6689385, essv6917917, essv6847251, essv6733594, essv6853456, essv6707384, essv6697091, essv6759174, essv6675346, essv6968087, essv6933451, essv6761944, essv6880538, essv6874825, essv6736093
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM079, SSM065, SSM087, SSM038, SSM097, SSM073, SSM093, SSM050, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM096, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM001, SSM086, SSM066, SSM006, SSM085, SSM068, SSM040, SSM072, SSM020, SSM078, SSM053, SSM037, SSM077, SSM010, SSM055, SSM025, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesCFH, CFHR1, CFHR3
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)esv2721006
Frequency
Sample Size96
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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