A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744364



Internal ID10325334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16020642..16052735hg38UCSC Ensembl
Outerchr1:16347137..16379230hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3832094
hg1932094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6748353, essv6828996, essv6839969, essv6895847, essv6754152, essv6718876, essv6910042, essv6906099, essv6710580, essv6793283, essv6729616, essv6967923, essv6917424, essv6780870, essv6821181, essv6725849, essv6776935, essv6801265, essv6743041, essv6669221, essv6892318, essv6756548, essv6675200, essv6764160, essv6784992, essv6824981, essv6828997, essv6937678, essv6718865, essv6750599, essv6972343, essv6871712, essv6836190, essv6714244, essv6769514, essv6925688, essv6961550, essv6917425, essv6816581, essv6921717, essv6950550, essv6718163, essv6946495, essv6914000, essv6883255, essv6843854, essv6874704, essv6784587, essv6950552, essv6747777, essv6836189
SamplesSSM059, SSM008, SSM083, SSM071, SSM027, SSM024, SSM046, SSM011, SSM079, SSM065, SSM009, SSM042, SSM002, SSM057, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM029, SSM017, SSM019, SSM032, SSM067, SSM044, SSM001, SSM014, SSM068, SSM081, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM022, SSM091, SSM095, SSM025, SSM099, SSM043, SSM098, SSM056, SSM063
Known GenesCLCNKA, CLCNKB
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)esv2744364
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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