A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3331220



Internal ID15178209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55434173..55435471hg38UCSC Ensembl
Innerchr19:55434471..55435173hg38UCSC Ensembl
Outerchr19:55433173..55436471hg38UCSC Ensembl
chr19:55945540..55946838hg19UCSC Ensembl
Innerchr19:55945838..55946540hg19UCSC Ensembl
Outerchr19:55944540..55947838hg19UCSC Ensembl
chr19:60637352..60638650hg18UCSC Ensembl
Innerchr19:60638352..60637650hg18UCSC Ensembl
Outerchr19:60636352..60639650hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691643
SamplesNA12878
Known GenesSHISA7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3331220
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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