A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745103



Internal ID10155689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:240536413..240536921hg38UCSC Ensembl
Outerchr1:240699713..240700221hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726029
Supporting Variants
SamplesSSM055
Known GenesGREM2
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)essv6745103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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