A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5648699



Internal ID8626102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62157260..62158657hg38UCSC Ensembl
chr1:62622932..62624329hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663885
Supporting Variants
SamplesNA20798
Known GenesINADL
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5648699
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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