A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669307



Internal ID9741435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248187743..248187904hg38UCSC Ensembl
Outerchr1:248351045..248351206hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728017, esv2728040, esv2728051, esv2728006
Supporting Variants
SamplesSSM031
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)essv6669307
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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