A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398251



Internal ID14898528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215111926..215111945hg38UCSC Ensembl
Innerchr1:215111922..215111949hg38UCSC Ensembl
Outerchr1:215111903..215111968hg38UCSC Ensembl
chr1:215285269..215285288hg19UCSC Ensembl
Innerchr1:215285265..215285292hg19UCSC Ensembl
Outerchr1:215285246..215285311hg19UCSC Ensembl
chr1:213351892..213351911hg18UCSC Ensembl
Innerchr1:213351915..213351888hg18UCSC Ensembl
Outerchr1:213351869..213351934hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9598080
SamplesNA19143
Known GenesKCNK2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398251
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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