A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387342



Internal ID15234311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53095592..53102090hg38UCSC Ensembl
Innerchr1:53096592..53101090hg38UCSC Ensembl
Outerchr1:53094592..53103090hg38UCSC Ensembl
chr1:53561264..53567762hg19UCSC Ensembl
Innerchr1:53562264..53566762hg19UCSC Ensembl
Outerchr1:53560264..53568762hg19UCSC Ensembl
chr1:53333852..53340350hg18UCSC Ensembl
Innerchr1:53334852..53339350hg18UCSC Ensembl
Outerchr1:53332852..53341350hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg386499
hg196499
hg186499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e59
Supporting Variantsessv8692361
SamplesNA19240
Known GenesSLC1A7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387342
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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