A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674696



Internal ID9940801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17287380..17289049hg38UCSC Ensembl
chr19:17398189..17399858hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381670
hg191670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5990408, essv6083502, essv5946571, essv5427738, essv6572031, essv6236084, essv6144169, essv6441925, essv6467211
SamplesNA19393, NA18519, NA20127, NA19908, NA19663, NA19257, NA19469, NA19395, NA19438
Known GenesANKLE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674696
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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