A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9865175



Internal ID6490468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16389004..16407230hg38UCSC Ensembl
chr1:16715499..16733725hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3818227
hg1918227
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585337
Supporting Variants
SamplesHG03978
Known GenesSPATA21, SZRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9865175
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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