A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666580



Internal ID9585999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39809294..39897966hg38UCSC Ensembl
Outerchr1:39809257..39898016hg38UCSC Ensembl
Innerchr1:40274966..40363638hg19UCSC Ensembl
Outerchr1:40274929..40363688hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3888760
hg1988760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6237892
SamplesNA18626
Known GenesMYCL, TRIT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666580
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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