A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672724



Internal ID9744022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:97678821..97678942hg38UCSC Ensembl
Outerchr10:99438578..99438699hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739918, esv2739929
Supporting Variants
SamplesSSM031
Known GenesAVPI1
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)essv6672724
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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