A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644615



Internal ID7031369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49131487..49174364hg38UCSC Ensembl
Innerchr19:49131637..49174214hg38UCSC Ensembl
Outerchr19:49131337..49174514hg38UCSC Ensembl
chr19:49634744..49677621hg19UCSC Ensembl
Innerchr19:49634894..49677471hg19UCSC Ensembl
Outerchr19:49634594..49677771hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3842878
hg1942878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv667e214
Supporting Variantsessv16075183, essv16075180, essv16075186, essv16075182, essv16075185, essv16075184, essv16075181
SamplesHG03057, HG00306, HG00369, HG00182, NA12718, HG03382, HG02051
Known GenesHRC, PPFIA3, TRPM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644615
Frequency
Sample Size2504
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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