A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676112



Internal ID9595531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3146524..3146683hg38UCSC Ensembl
Outerchr1:3146467..3146784hg38UCSC Ensembl
Innerchr1:3063088..3063247hg19UCSC Ensembl
Outerchr1:3063031..3063348hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5955277, essv5839364, essv6197856, essv5787724, essv5787793, essv6514533, essv5572598, essv6446228
SamplesHG01441, NA19453, NA19443, NA11843, NA19172, NA19189, NA20797, NA19470
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676112
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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