A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7781298



Internal ID14466368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454666..56454667hg38UCSC Ensembl
Innerchr19:56454648..56454685hg38UCSC Ensembl
Outerchr19:56454647..56454686hg38UCSC Ensembl
chr19:56966035..56966036hg19UCSC Ensembl
Innerchr19:56966017..56966054hg19UCSC Ensembl
Outerchr19:56966016..56966055hg19UCSC Ensembl
chr19:61657847..61657848hg18UCSC Ensembl
Innerchr19:61657866..61657829hg18UCSC Ensembl
Outerchr19:61657828..61657867hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304685
Supporting Variants
SamplesNA19093
Known GenesZNF667
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7781298
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer