A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669501



Internal ID9935606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41186238..41191773hg38UCSC Ensembl
chr19:41692143..41697678hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385536
hg195536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv644e199
Supporting Variantsessv6162526, essv5783690, essv6306670, essv5783066, essv6345362, essv5665676, essv6266469, essv5845621, essv5949508, essv6045491, essv6174028, essv5711110, essv5988286, essv5849810, essv6494459, essv5757151, essv5645980, essv6285726
SamplesNA19394, NA19107, NA19379, NA19197, NA19313, NA19404, NA19172, NA19347, NA18933, NA19391, NA19455, HG00740, NA19114, HG01148, NA19334, NA19468, NA19429, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669501
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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