A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714017



Internal ID9948301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:15775080..15775662hg38UCSC Ensembl
Outerchr16:15868937..15869519hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732600, essv6828189, essv6857973, essv6792342, essv6706634, essv6812568, essv6871094, essv6920724, essv6815858, essv6779936, essv6724946, essv6741943, essv6966570, essv6691993, essv6960105, essv6717281, essv6945505, essv6851985, essv6971342, essv6696075, essv6713412, essv6831781, essv6796513, essv6702945, essv6901768, essv6673950, essv6665467, essv6784062, essv6800728, essv6776150, essv6924838, essv6905364, essv6721152, essv6835325, essv6932368, essv6788256, essv6936667, essv6776500, essv6768872, essv6913069
SamplesSSM036, SSM008, SSM071, SSM027, SSM045, SSM064, SSM087, SSM039, SSM013, SSM042, SSM023, SSM028, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM031, SSM067, SSM044, SSM086, SSM066, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM080, SSM037, SSM077, SSM076, SSM070, SSM043, SSM012
Known GenesMYH11
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)esv2714017
Frequency
Sample Size96
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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