A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643363



Internal ID7030131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:712133..716174hg38UCSC Ensembl
chr19:712133..716174hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384042
hg194042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15967934, essv15967937, essv15967930, essv15967933, essv15967931, essv15967935, essv15967936, essv15967932
SamplesHG01485, HG03484, NA18616, HG02156, HG00867, HG03832, HG01565, HG03907
Known GenesPALM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643363
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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