A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714036



Internal ID9948320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:17143030..17144469hg38UCSC Ensembl
Outerchr16:17236887..17238326hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6966573, essv6839104, essv6916561, essv6784064, essv6975273, essv6960110, essv6940838, essv6857977, essv6949582, essv6913071, essv6900989, essv6792344, essv6877058, essv6776155, essv6901771, essv6779937, essv6924839, essv6809999, essv6717283, essv6953767, essv6665470, essv6690432, essv6945508, essv6932369, essv6741501, essv6831784, essv6905368, essv6851989, essv6920725, essv6713413, essv6846333, essv6874029, essv6936668, essv6702946, essv6776533, essv6870031, essv6796515, essv6682008, essv6696077
SamplesSSM100, SSM008, SSM083, SSM071, SSM027, SSM024, SSM011, SSM087, SSM039, SSM013, SSM009, SSM042, SSM023, SSM092, SSM021, SSM018, SSM029, SSM026, SSM017, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM020, SSM015, SSM016, SSM005, SSM037, SSM022, SSM091, SSM070, SSM025, SSM004, SSM043, SSM052, SSM012
Known GenesXYLT1
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)esv2714036
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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