A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950703



Internal ID9713256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:202204153..202204713hg38UCSC Ensembl
Outerchr1:202173281..202173841hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721550
Supporting Variants
SamplesSSM025
Known GenesLGR6
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)essv6950703
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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