A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6698525



Internal ID9766383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27823860..27824159hg38UCSC Ensembl
Outerchr10:28112789..28113088hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734606, esv2734739
Supporting Variants
SamplesSSM038
Known GenesARMC4
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)essv6698525
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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