A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750694



Internal ID9814880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152354919..152355195hg38UCSC Ensembl
Outerchr1:152327395..152327671hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718151, esv2718140
Supporting Variants
SamplesSSM057
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)essv6750694
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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