A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691671



Internal ID14683207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7037541..7042639hg38UCSC Ensembl
Innerchr19:7038541..7041639hg38UCSC Ensembl
Outerchr19:7036541..7043639hg38UCSC Ensembl
chr19:7037552..7042650hg19UCSC Ensembl
Innerchr19:7038552..7041650hg19UCSC Ensembl
Outerchr19:7036552..7043650hg19UCSC Ensembl
chr19:6988552..6993650hg18UCSC Ensembl
Innerchr19:6989552..6992650hg18UCSC Ensembl
Outerchr19:6987552..6994650hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323576
Supporting Variants
SamplesNA19238
Known GenesMBD3L4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691671
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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