A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9594702



Internal ID12818414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69946652..69946671hg38UCSC Ensembl
Innerchr1:69946648..69946675hg38UCSC Ensembl
Outerchr1:69946629..69946694hg38UCSC Ensembl
chr1:70412335..70412354hg19UCSC Ensembl
Innerchr1:70412331..70412358hg19UCSC Ensembl
Outerchr1:70412312..70412377hg19UCSC Ensembl
chr1:70184923..70184942hg18UCSC Ensembl
Innerchr1:70184946..70184919hg18UCSC Ensembl
Outerchr1:70184900..70184965hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3448225
Supporting Variants
SamplesNA11840
Known GenesLRRC7
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9594702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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