A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6906204



Internal ID9674268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152354998..152355187hg38UCSC Ensembl
Outerchr1:152327474..152327663hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718151, esv2718140
Supporting Variants
SamplesSSM014
Known GenesFLG2, FLG-AS1
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)essv6906204
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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