A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714108



Internal ID9948392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:24124786..24125578hg38UCSC Ensembl
Outerchr16:24136107..24136899hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673964, essv6692005, essv6828201, essv6776588, essv6842946, essv6966584, essv6924848, essv6685501, essv6920732, essv6696084, essv6702953, essv6953774, essv6665482, essv6852000, essv6831791, essv6932376, essv6784074, essv6717289, essv6800740, essv6901778, essv6792350, essv6772569, essv6940848, essv6971348, essv6945514, essv6724950, essv6776161, essv6713422
SamplesSSM065, SSM022, SSM027, SSM086, SSM036, SSM084, SSM042, SSM043, SSM031, SSM025, SSM072, SSM020, SSM039, SSM045, SSM012, SSM017, SSM066, SSM028, SSM029, SSM037, SSM034, SSM023, SSM068, SSM008, SSM018, SSM081, SSM070, SSM080
Known GenesPRKCB
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)esv2714108
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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