A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667609



Internal ID9587028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54472514..55094226hg38UCSC Ensembl
chr19:54983659..55605594hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38621713
hg19621936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6529829, essv6495632
SamplesNA18542, NA18985
Known GenesCDC42EP5, EPS8L1, FCAR, GP6, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, LAIR2, LILRA1, LILRA2, LILRB1, LILRB4, LILRP2, LOC100287534, MIR8061, NCR1, NLRP2, NLRP7, PPP1R12C, RDH13, RNU6-35P, RNU6-64P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667609
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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