A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678369



Internal ID14757708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216025372..216025391hg38UCSC Ensembl
Innerchr1:216025368..216025395hg38UCSC Ensembl
Outerchr1:216025349..216025414hg38UCSC Ensembl
chr1:216198714..216198733hg19UCSC Ensembl
Innerchr1:216198710..216198737hg19UCSC Ensembl
Outerchr1:216198691..216198756hg19UCSC Ensembl
chr1:214265337..214265356hg18UCSC Ensembl
Innerchr1:214265360..214265333hg18UCSC Ensembl
Outerchr1:214265314..214265379hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3329628
Supporting Variants
SamplesNA19240
Known GenesUSH2A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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