A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691567



Internal ID14716892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44520578..44521981hg38UCSC Ensembl
Innerchr19:44520980..44521583hg38UCSC Ensembl
Outerchr19:44519578..44522981hg38UCSC Ensembl
chr19:45024612..45026010hg19UCSC Ensembl
Innerchr19:45025010..45025612hg19UCSC Ensembl
Outerchr19:45023612..45027010hg19UCSC Ensembl
chr19:49716452..49717850hg18UCSC Ensembl
Innerchr19:49717452..49716850hg18UCSC Ensembl
Outerchr19:49715452..49718850hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381404
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359491
Supporting Variants
SamplesNA19239
Known GenesCEACAM20
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691567
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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