A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673167



Internal ID9592586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3939266..3939980hg38UCSC Ensembl
Outerchr19:3939229..3940030hg38UCSC Ensembl
Innerchr19:3939264..3939978hg19UCSC Ensembl
Outerchr19:3939227..3940028hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818830, essv6558369, essv5729647, essv6366578
SamplesNA20809, NA07051, HG00256, HG00133
Known GenesNMRK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673167
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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