A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3641455



Internal ID7028229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83138020..83205273hg38UCSC Ensembl
chr17:81085789..81153042hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3867254
hg1967254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15771438, essv15771429, essv15771432, essv15771439, essv15771434, essv15771433, essv15771436, essv15771428, essv15771437, essv15771435, essv15771430, essv15771431
SamplesNA19307, NA19131, HG03246, HG02816, HG02667, HG01915, HG00409, HG03066, HG02053, HG02679, HG03538, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3641455
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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