A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750336



Internal ID10331306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1397001..1397979hg38UCSC Ensembl
Outerchr16:1447002..1447980hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38979
hg19979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971325, essv6839080, essv6888353, essv6721142, essv6820254, essv6788244, essv6709876, essv6685485, essv6911597, essv6681995, essv6835312, essv6696061, essv6900975, essv6678287, essv6953746, essv6735489, essv6916542, essv6784047, essv6800713, essv6702924, essv6796496, essv6702925, essv6828175, essv6713398, essv6824089, essv6741820, essv6835313, essv6842922, essv6806733, essv6665438, essv6681996, essv6932352, essv6812559, essv6905348, essv6744355, essv6891666, essv6913051, essv6732583, essv6966555, essv6895066, essv6882677, essv6960075, essv6966554
SamplesSSM100, SSM083, SSM071, SSM027, SSM079, SSM097, SSM039, SSM013, SSM074, SSM042, SSM002, SSM041, SSM028, SSM084, SSM047, SSM069, SSM029, SSM096, SSM026, SSM094, SSM032, SSM044, SSM033, SSM068, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM076, SSM025, SSM034, SSM098, SSM049
Known GenesUNKL
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)esv2750336
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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