A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889203



Internal ID9937078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246619986..246620510hg38UCSC Ensembl
Outerchr1:246783288..246783812hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38525
hg19525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727507
Supporting Variants
SamplesSSM097
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)essv6889203
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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