A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732840



Internal ID10316476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:10451442..10451761hg38UCSC Ensembl
Outerchr10:10493405..10493724hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6900373, essv6879246, essv6705901, essv6799863, essv6965208, essv6684789, essv6702076, essv6672593, essv6890963, essv6787403, essv6806125, essv6809116, essv6866700, essv6811958, essv6803088, essv6897388, essv6894361, essv6923965, essv6727994, essv6882066, essv6677478, essv6931458, essv6827349, essv6795677, essv6850632, essv6908504, essv6771737, essv6887738, essv6709219
SamplesSSM100, SSM071, SSM027, SSM075, SSM046, SSM065, SSM097, SSM039, SSM009, SSM093, SSM074, SSM041, SSM018, SSM069, SSM096, SSM089, SSM094, SSM032, SSM031, SSM014, SSM086, SSM040, SSM072, SSM020, SSM080, SSM076, SSM034, SSM099, SSM098
Known Genes
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)esv2732840
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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