A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336032



Internal ID14836304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27107026..27107226hg38UCSC Ensembl
Innerchr1:27107026..27107226hg38UCSC Ensembl
Outerchr1:27105112..27108406hg38UCSC Ensembl
chr1:27433517..27433717hg19UCSC Ensembl
Innerchr1:27433517..27433717hg19UCSC Ensembl
Outerchr1:27431603..27434897hg19UCSC Ensembl
chr1:27306104..27306304hg18UCSC Ensembl
Innerchr1:27306104..27306304hg18UCSC Ensembl
Outerchr1:27304190..27307484hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652079
SamplesNA19240
Known GenesSLC9A1
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336032
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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