A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338654



Internal ID14838924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55265738..55266634hg38UCSC Ensembl
Innerchr19:55265738..55266634hg38UCSC Ensembl
Outerchr19:55265628..55266678hg38UCSC Ensembl
chr19:55777106..55778002hg19UCSC Ensembl
Innerchr19:55777106..55778002hg19UCSC Ensembl
Outerchr19:55776996..55778046hg19UCSC Ensembl
chr19:60468918..60469814hg18UCSC Ensembl
Innerchr19:60468918..60469814hg18UCSC Ensembl
Outerchr19:60468808..60469858hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38897
hg19897
hg18897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652027
SamplesNA19240
Known GenesHSPBP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338654
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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