A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728051



Internal ID9962363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187702..248187906hg38UCSC Ensembl
Outerchr1:248351004..248351208hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929297, essv6675420, essv6669307, essv6836392, essv6710790
SamplesSSM042, SSM031, SSM020, SSM032, SSM083
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)esv2728051
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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