A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731040



Internal ID9965357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2977488..2977624hg38UCSC Ensembl
Outerchr10:3019680..3019816hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672553, essv6677460
SamplesSSM032, SSM031
Known Genes
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)esv2731040
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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