A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10069202



Internal ID71018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111654312..111664861hg38UCSC Ensembl
chr1:112196934..112207483hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3810550
hg1910550
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587194
Supporting Variants
SamplesHG01512
Known GenesRAP1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10069202
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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