A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749555



Internal ID9983839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:34434488..34580648hg38UCSC Ensembl
Outerchr15:34726689..34872849hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38146161
hg19146161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv302e201
Supporting Variantsessv6862862, essv6738183, essv6749958, essv6846254, essv6809690, essv6905278, essv6977926, essv6891608, essv6783960, essv6699020, essv6688586, essv6882619, essv6857824, essv6745931, essv6900917, essv6796415, essv6706555, essv6803772, essv6776069, essv6721068, essv6709816, essv6911173, essv6901694, essv6828096, essv6744298, essv6879758, essv6668413, essv6837610, essv6812509, essv6928259, essv6966419, essv6752846, essv6775686, essv6713336
SamplesSSM100, SSM008, SSM071, SSM027, SSM075, SSM087, SSM038, SSM097, SSM013, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM029, SSM019, SSM035, SSM094, SSM044, SSM001, SSM066, SSM085, SSM068, SSM040, SSM053, SSM080, SSM076, SSM010, SSM056, SSM030, SSM012
Known GenesGOLGA8A, GOLGA8B, MIR1233-1, MIR1233-2
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)esv2749555
Frequency
Sample Size96
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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