A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731428



Internal ID9965746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3458220..3458378hg38UCSC Ensembl
Outerchr10:3500412..3500570hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965185, essv6672563, essv6856625, essv6882056, essv6958645
SamplesSSM027, SSM087, SSM026, SSM094, SSM031
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)esv2731428
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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