A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714022



Internal ID9948306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16002730..16003653hg38UCSC Ensembl
Outerchr16:16096587..16097510hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6772562, essv6966571, essv6665468, essv6776511, essv6851986, essv6945506, essv6820270, essv6846330, essv6673951, essv6699072, essv6831782, essv6949581, essv6776151, essv6728760, essv6741499, essv6800729, essv6835326, essv6862983, essv6744358, essv6755938, essv6691994, essv6960107, essv6870009, essv6788257, essv6812569, essv6891675, essv6877057, essv6901769, essv6690421, essv6867769, essv6857974, essv6750018, essv6897996, essv6815859, essv6784063, essv6678300, essv6940836
SamplesSSM065, SSM022, SSM027, SSM092, SSM053, SSM082, SSM086, SSM036, SSM099, SSM078, SSM088, SSM089, SSM031, SSM072, SSM032, SSM024, SSM097, SSM077, SSM005, SSM012, SSM056, SSM085, SSM011, SSM066, SSM029, SSM069, SSM087, SSM038, SSM046, SSM023, SSM052, SSM068, SSM026, SSM008, SSM076, SSM058, SSM081
Known GenesABCC1
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)esv2714022
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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