A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6699834



Internal ID9769309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246619934..246620623hg38UCSC Ensembl
Outerchr1:246783236..246783925hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727507
Supporting Variants
SamplesSSM039
Known GenesCNST
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)essv6699834
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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