A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715585



Internal ID9949872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103594409..103761140hg38UCSC Ensembl
Outerchr1:104137031..104303762hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38166732
hg19166732
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961685
SamplesSSM027
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
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)esv2715585
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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