A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741239



Internal ID9975563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:116064053..116064202hg38UCSC Ensembl
Outerchr10:117823564..117823713hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958821
SamplesSSM026
Known GenesGFRA1
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)esv2741239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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