A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652027



Internal ID14754606
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 StatusS
Merged Variantsesv3338654
Supporting Variants
SamplesNA19240
Known GenesHSPBP1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652027
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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