A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3337682



Internal ID14837952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42817589..42817608hg38UCSC Ensembl
Innerchr1:42817585..42817612hg38UCSC Ensembl
Outerchr1:42817566..42817631hg38UCSC Ensembl
chr1:43283260..43283279hg19UCSC Ensembl
Innerchr1:43283256..43283283hg19UCSC Ensembl
Outerchr1:43283237..43283302hg19UCSC Ensembl
chr1:43055847..43055866hg18UCSC Ensembl
Innerchr1:43055870..43055843hg18UCSC Ensembl
Outerchr1:43055824..43055889hg18UCSC Ensembl
Cytoband1p34.2
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 Variantsessv8678402
SamplesNA19240
Known GenesERMAP
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3337682
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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