A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674634



Internal ID9594053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2104273..2104441hg38UCSC Ensembl
chr19:2104272..2104440hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6391187, essv6441591, essv5591926, essv6393774, essv6495249, essv6038782, essv5891121, essv6590604, essv6500742, essv5503980, essv5422859, essv6049346, essv6494519, essv5756130, essv6156401, essv5694342
SamplesHG00252, NA07347, HG01353, NA19404, NA11918, HG00428, HG00319, HG00253, HG00154, HG00346, HG00125, NA20513, HG00285, NA19371, HG00275, HG00324
Known GenesAP3D1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674634
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer