A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644614



Internal ID7031368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49130606..49174000hg38UCSC Ensembl
chr19:49633863..49677257hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3843395
hg1943395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv667e214
Supporting Variantsessv16075178, essv16075179, essv16075177
SamplesHG03057, HG03382, HG02051
Known GenesHRC, PPFIA3, TRPM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644614
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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