A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7805335



Internal ID14366534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204375912..204375913hg38UCSC Ensembl
Innerchr1:204375895..204375930hg38UCSC Ensembl
Outerchr1:204375894..204375931hg38UCSC Ensembl
chr1:204345040..204345041hg19UCSC Ensembl
Innerchr1:204345023..204345058hg19UCSC Ensembl
Outerchr1:204345022..204345059hg19UCSC Ensembl
chr1:202611663..202611664hg18UCSC Ensembl
Innerchr1:202611681..202611646hg18UCSC Ensembl
Outerchr1:202611645..202611682hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38301
hg19301
hg18301
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306465
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7805335
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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