A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965223



Internal ID9723276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15229756..15229864hg38UCSC Ensembl
Outerchr10:15271755..15271863hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2733550, esv2733539, esv2733528
Supporting Variants
SamplesSSM027
Known GenesFAM171A1
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)essv6965223
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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