A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6834593



Internal ID10234429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11514012..11514463hg38UCSC Ensembl
Outerchr10:11556011..11556462hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732984
Supporting Variants
SamplesSSM082
Known GenesUSP6NL
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)essv6834593
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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