A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586502



Internal ID6974022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76701236..76726940hg38UCSC Ensembl
chr1:77166921..77192625hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3825705
hg1925705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9978416, essv9978431, essv9978426, essv9978432, essv9978428, essv9978418, essv9978414, essv9978422, essv9978419, essv9978413, essv9978423, essv9978420, essv9978427, essv9978424, essv9978421, essv9978412, essv9978429, essv9978417, essv9978425, essv9978415, essv9978430
SamplesHG02610, HG02012, HG02624, NA18510, HG02756, HG03246, HG02981, HG02885, HG02887, HG02878, HG03123, HG02817, HG03397, HG02330, HG02667, HG03117, HG03063, NA18876, HG03077, HG03470, HG03401
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586502
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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