A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10090675



Internal ID92491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144915703..145023143hg38UCSC Ensembl
chr1:143984622..144094733hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38107441
hg19110112
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587386
Supporting Variants
SamplesNA19009
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10090675
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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