A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740995



Internal ID9975332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112377002..112377064hg38UCSC Ensembl
Outerchr10:114136760..114136822hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850769
SamplesSSM086
Known GenesACSL5
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)esv2740995
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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