A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728117



Internal ID9962429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248246261..248247361hg38UCSC Ensembl
Outerchr1:248409563..248410663hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933539
SamplesSSM021
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)esv2728117
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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