A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325216



Internal ID14825497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216025373..216025409hg38UCSC Ensembl
Innerchr1:216025388..216025391hg38UCSC Ensembl
Outerchr1:216025352..216025427hg38UCSC Ensembl
chr1:216198715..216198751hg19UCSC Ensembl
Innerchr1:216198730..216198733hg19UCSC Ensembl
Outerchr1:216198694..216198769hg19UCSC Ensembl
chr1:214265338..214265374hg18UCSC Ensembl
Innerchr1:214265356..214265353hg18UCSC Ensembl
Outerchr1:214265317..214265392hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8902954, essv8902955, essv8902957, essv8902959, essv8902956
SamplesNA18511, NA19147, NA18498, NA19138, NA18909
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325216
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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