A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16427868



Internal ID1118601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39997535..40001276hg38UCSC Ensembl
Innerchr22:39997535..40001276hg38UCSC Ensembl
Outerchr22:39997256..40001568hg38UCSC Ensembl
chr22:40393539..40397280hg19UCSC Ensembl
Innerchr22:40393539..40397280hg19UCSC Ensembl
Outerchr22:40393260..40397572hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647769
Supporting Variants
SamplesHG00743
Known GenesFAM83F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16427868
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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