A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647319



Internal ID7034060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21644516..21646061hg38UCSC Ensembl
Innerchr22:21644571..21646006hg38UCSC Ensembl
Outerchr22:21644461..21646116hg38UCSC Ensembl
chr22:21998805..22000350hg19UCSC Ensembl
Innerchr22:21998860..22000295hg19UCSC Ensembl
Outerchr22:21998750..22000405hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381546
hg191546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370981, essv16370978, essv16370998, essv16370993, essv16371000, essv16370997, essv16370987, essv16370990, essv16370986, essv16370988, essv16370989, essv16370996, essv16370992, essv16371003, essv16371002, essv16370977, essv16371004, essv16370995, essv16370983, essv16370999, essv16370985, essv16370980, essv16370979, essv16370994, essv16371001, essv16370991, essv16370982, essv16370984
SamplesHG03366, NA19703, HG03449, HG02798, HG03515, NA18627, NA19379, NA18489, HG03105, HG02634, HG03045, NA20412, HG02439, HG03160, HG03061, HG02953, HG02976, HG02309, HG02881, HG01896, NA19375, HG02613, HG03469, HG02970, HG03049, HG02938, NA19096, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647319
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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