A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691994



Internal ID14718867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157811638..157812836hg38UCSC Ensembl
Innerchr1:157811836..157812638hg38UCSC Ensembl
Outerchr1:157810638..157813836hg38UCSC Ensembl
chr1:157781428..157782626hg19UCSC Ensembl
Innerchr1:157781626..157782428hg19UCSC Ensembl
Outerchr1:157780428..157783626hg19UCSC Ensembl
chr1:156048052..156049250hg18UCSC Ensembl
Innerchr1:156049052..156048250hg18UCSC Ensembl
Outerchr1:156047052..156050250hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371841
Supporting Variants
SamplesNA19239
Known GenesFCRL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691994
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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