A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715068



Internal ID9949353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88933308..88933735hg38UCSC Ensembl
Outerchr16:88999716..89000143hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6703081, essv6835460, essv6721294, essv6871309, essv6796664, essv6713542, essv6665667, essv6852151, essv6699158, essv6758619, essv6839252, essv6792491, essv6688782, essv6905481, essv6932533, essv6732756, essv6824235, essv6788395, essv6674158, essv6871182, essv6949730, essv6879918, essv6776282, essv6831902, essv6696200, essv6728891, essv6768963, essv6971474, essv6874104, essv6945637, essv6803933
SamplesSSM059, SSM083, SSM071, SSM024, SSM046, SSM011, SSM064, SSM079, SSM038, SSM039, SSM013, SSM073, SSM093, SSM042, SSM023, SSM028, SSM090, SSM047, SSM069, SSM029, SSM035, SSM031, SSM044, SSM086, SSM066, SSM081, SSM082, SSM020, SSM037, SSM091, SSM070
Known GenesCBFA2T3
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)esv2715068
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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