A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648012



Internal ID7034751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48383190..48391657hg38UCSC Ensembl
Innerchr22:48383190..48391657hg38UCSC Ensembl
Outerchr22:48382958..48391847hg38UCSC Ensembl
chr22:48779002..48787469hg19UCSC Ensembl
Innerchr22:48779002..48787469hg19UCSC Ensembl
Outerchr22:48778770..48787659hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg388468
hg198468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16449696, essv16449698, essv16449690, essv16449683, essv16449685, essv16449694, essv16449688, essv16449687, essv16449681, essv16449699, essv16449691, essv16449680, essv16449703, essv16449678, essv16449704, essv16449676, essv16449689, essv16449693, essv16449692, essv16449684, essv16449686, essv16449697, essv16449679, essv16449701, essv16449702, essv16449682, essv16449677, essv16449695, essv16449700
SamplesNA20882, HG03773, NA21111, NA21092, HG03015, HG04094, HG03895, NA21135, HG03873, HG03673, HG03905, HG03830, NA21109, HG03947, HG04039, HG03644, HG03900, HG02604, HG03953, HG03006, HG04159, HG03898, HG04025, HG03866, NA21126, NA21125, HG03022, HG03998, HG03684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648012
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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