A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587131



Internal ID6974558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108474168..108514537hg38UCSC Ensembl
chr1:109016790..109057159hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3840370
hg1940370
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10052997, essv10052999, essv10052998
SamplesNA11931, HG02014, NA19256
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587131
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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