A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691684



Internal ID15029995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7690666..7693264hg38UCSC Ensembl
Innerchr19:7691666..7692264hg38UCSC Ensembl
Outerchr19:7689666..7694264hg38UCSC Ensembl
chr19:7755552..7758150hg19UCSC Ensembl
Innerchr19:7756552..7757150hg19UCSC Ensembl
Outerchr19:7754552..7759150hg19UCSC Ensembl
chr19:7661552..7664150hg18UCSC Ensembl
Innerchr19:7662552..7663150hg18UCSC Ensembl
Outerchr19:7660552..7665150hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3388356
Supporting Variants
SamplesNA19238
Known GenesFCER2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691684
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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