A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675501



Internal ID9941606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:190368786..190473892hg38UCSC Ensembl
Outerchr1:190368415..190474262hg38UCSC Ensembl
Innerchr1:190337916..190443022hg19UCSC Ensembl
Outerchr1:190337545..190443392hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38105848
hg19105848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6475807, essv5850829, essv5770307, essv6233049
SamplesNA19819, NA19834, NA19818, NA19713
Known GenesBRINP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675501
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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