A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5819338



Internal ID9503676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221085139..221090833hg38UCSC Ensembl
chr1:221258481..221264175hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385695
hg195695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv2678208
Supporting Variants
SamplesNA18983
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5819338
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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