A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640470



Internal ID7027245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:36461232..36515958hg38UCSC Ensembl
chr17:34817046..34871801hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3854727
hg1954756
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv573e214
Supporting Variantsessv15666417, essv15666418, essv15666414, essv15666419, essv15666415, essv15666413, essv15666420, essv15666416, essv15666421
SamplesHG01986, NA20287, NA19707, HG02144, HG02508, HG03472, HG02283, HG01990, HG03439
Known GenesMYO19, ZNHIT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640470
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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