A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6473617



Internal ID9451020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399630..231410291hg38UCSC Ensembl
chr1:231535376..231546037hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810662
hg1910662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661110
Supporting Variants
SamplesHG00671
Known GenesEGLN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6473617
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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