A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726041



Internal ID10136920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241197243..241197555hg38UCSC Ensembl
Outerchr1:241360543..241360855hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726095, esv2726106, esv2726084
Supporting Variants
SamplesSSM046
Known GenesRGS7
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)essv6726041
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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