A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666365



Internal ID9585784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:37507193..37524719hg38UCSC Ensembl
Outerchr1:37507156..37524769hg38UCSC Ensembl
Innerchr1:37972794..37990320hg19UCSC Ensembl
Outerchr1:37972757..37990370hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3817614
hg1917614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5969974
SamplesNA18567
Known GenesMEAF6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666365
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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