A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387904



Internal ID14888187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44219859..44221557hg38UCSC Ensembl
Innerchr19:44220557..44220859hg38UCSC Ensembl
Outerchr19:44218859..44222557hg38UCSC Ensembl
chr19:44724012..44725710hg19UCSC Ensembl
Innerchr19:44724710..44725012hg19UCSC Ensembl
Outerchr19:44723012..44726710hg19UCSC Ensembl
chr19:49415852..49417550hg18UCSC Ensembl
Innerchr19:49416852..49416550hg18UCSC Ensembl
Outerchr19:49414852..49418550hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691565
SamplesNA12891
Known GenesZNF227
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387904
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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