A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738228



Internal ID10321864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:70918611..70918851hg38UCSC Ensembl
Outerchr10:72678368..72678608hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873466, essv6819355, essv6965304, essv6863353, essv6862027, essv6891011, essv6850721, essv6958768, essv6672688, essv6702139, essv6856739, essv6677535, essv6976614, essv6866772, essv6952914
SamplesSSM027, SSM011, SSM087, SSM097, SSM039, SSM088, SSM029, SSM026, SSM089, SSM032, SSM031, SSM086, SSM078, SSM091, SSM025
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)esv2738228
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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