A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10038873



Internal ID4627643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:102777709..102837820hg38UCSC Ensembl
chr1:103243265..103303376hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3860112
hg1960112
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587000
Supporting Variants
SamplesHG04159
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10038873
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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