A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748985



Internal ID9983269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62133031..62133208hg38UCSC Ensembl
Outerchr1:62598703..62598880hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847084, essv6707293
SamplesSSM086, SSM041
Known GenesINADL
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)esv2748985
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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