A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750327



Internal ID10331297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1356636..1357350hg38UCSC Ensembl
Outerchr16:1406637..1407351hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38715
hg19715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6828173, essv6851951, essv6901754, essv6779919, essv6724933, essv6732581, essv6796494, essv6696059, essv6702922, essv6717262, essv6835309, essv6788241, essv6940815, essv6932349, essv6668448, essv6800711, essv6975106, essv6691983, essv6928308, essv6792325, essv6709874, essv6971322, essv6665436, essv6960072, essv6842920, essv6869865, essv6916539, essv6945478, essv6678285, essv6924817, essv6831767, essv6784045, essv6728745, essv6953744, essv6949570, essv6966552, essv6920704
SamplesSSM036, SSM071, SSM027, SSM024, SSM045, SSM046, SSM011, SSM039, SSM041, SSM023, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM019, SSM032, SSM067, SSM086, SSM068, SSM081, SSM072, SSM082, SSM020, SSM016, SSM080, SSM037, SSM022, SSM070, SSM025, SSM004, SSM043, SSM030, SSM012
Known GenesGNPTG
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)esv2750327
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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