A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16411335



Internal ID3100722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34948496..34950178hg38UCSC Ensembl
Innerchr22:34948548..34950126hg38UCSC Ensembl
Outerchr22:34948444..34950230hg38UCSC Ensembl
chr22:35344485..35346167hg19UCSC Ensembl
Innerchr22:35344537..35346115hg19UCSC Ensembl
Outerchr22:35344433..35346219hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg381683
hg191683
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647658
Supporting Variants
SamplesHG02724
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16411335
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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