A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9678158



Internal ID12818306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56454682..56454701hg38UCSC Ensembl
Innerchr19:56454678..56454705hg38UCSC Ensembl
Outerchr19:56454659..56454724hg38UCSC Ensembl
chr19:56966051..56966070hg19UCSC Ensembl
Innerchr19:56966047..56966074hg19UCSC Ensembl
Outerchr19:56966028..56966093hg19UCSC Ensembl
chr19:61657863..61657882hg18UCSC Ensembl
Innerchr19:61657886..61657859hg18UCSC Ensembl
Outerchr19:61657840..61657905hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3424509
Supporting Variants
SamplesNA11840
Known GenesZNF667
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9678158
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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