A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643414



Internal ID6683489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1948005..2041193hg38UCSC Ensembl
chr19:1948004..2041192hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3893189
hg1993189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15968172, essv15968171, essv15968169, essv15968170
SamplesNA19035, NA19468, NA20289, HG00131
Known GenesBTBD2, CSNK1G2, CSNK1G2-AS1, MKNK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643414
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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