A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440809



Internal ID14941076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454679..56454689hg38UCSC Ensembl
Innerchr19:56454675..56454691hg38UCSC Ensembl
Outerchr19:56454665..56454703hg38UCSC Ensembl
chr19:56966048..56966058hg19UCSC Ensembl
Innerchr19:56966044..56966060hg19UCSC Ensembl
Outerchr19:56966034..56966072hg19UCSC Ensembl
chr19:61657860..61657870hg18UCSC Ensembl
Innerchr19:61657872..61657856hg18UCSC Ensembl
Outerchr19:61657846..61657884hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8673700, essv8673702, essv8673701
SamplesNA12892, NA19238, NA19240
Known GenesZNF667
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440809
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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