A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736800



Internal ID10320436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27826029..27827062hg38UCSC Ensembl
Outerchr8:27683546..27684579hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381034
hg191034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795333, essv6818914, essv6782860, essv6893354, essv6687781, essv6964712, essv6887492, essv6672068, essv6841835, essv6814880, essv6856167, essv6890723, essv6791186, essv6701747, essv6755028, essv6866325, essv6698328, essv6975927, essv6881862, essv6850141, essv6677164
SamplesSSM071, SSM027, SSM087, SSM038, SSM097, SSM039, SSM058, SSM084, SSM029, SSM096, SSM089, SSM035, SSM094, SSM032, SSM031, SSM086, SSM068, SSM078, SSM077, SSM070, SSM012
Known GenesPBK
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)esv2736800
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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