A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746621



Internal ID14359732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212717694..212717695hg38UCSC Ensembl
Innerchr1:212717663..212717726hg38UCSC Ensembl
Outerchr1:212717662..212717727hg38UCSC Ensembl
chr1:212891036..212891037hg19UCSC Ensembl
Innerchr1:212891005..212891068hg19UCSC Ensembl
Outerchr1:212891004..212891069hg19UCSC Ensembl
chr1:210957659..210957660hg18UCSC Ensembl
Innerchr1:210957691..210957628hg18UCSC Ensembl
Outerchr1:210957627..210957692hg18UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38292
hg19292
hg18292
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307825
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746621
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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