A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675304



Internal ID9594723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10101623..10103908hg38UCSC Ensembl
chr19:10212299..10214584hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382286
hg192286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5857208, essv5814821, essv5590272, essv6520506, essv5724378, essv5716218, essv6454595, essv6211294, essv5476801, essv5564866, essv5971732, essv5955403
SamplesHG01060, NA20806, HG01067, HG00325, HG00160, HG01048, HG00323, HG01095, HG00331, NA19652, HG00312, HG00171
Known GenesANGPTL6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675304
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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