A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16429384



Internal ID2039252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40398206..40399230hg38UCSC Ensembl
Innerchr22:40398206..40399230hg38UCSC Ensembl
Outerchr22:40398206..40399230hg38UCSC Ensembl
chr22:40794210..40795234hg19UCSC Ensembl
Innerchr22:40794210..40795234hg19UCSC Ensembl
Outerchr22:40794210..40795234hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381025
hg191025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647775
Supporting Variants
SamplesHG01868
Known GenesSGSM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16429384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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