A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667434



Internal ID9933539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12292301..12294048hg38UCSC Ensembl
chr19:12403116..12404863hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6473742, essv6176574, essv5737793, essv5420009, essv6176071, essv5624922
SamplesNA11932, HG00176, HG00732, HG00124, HG00119, HG00343
Known GenesZNF44
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667434
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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