A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643347



Internal ID6683427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:323368..334484hg38UCSC Ensembl
chr19:323368..334484hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3811117
hg1911117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961939, essv15961941, essv15961937, essv15961943, essv15961942, essv15961936, essv15961938, essv15961940
SamplesNA18616, HG03837, NA19079, HG03986, NA19461, NA19439, NA19083, NA19431
Known GenesMIER2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643347
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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