A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674167



Internal ID15035565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:96034709..96034727hg38UCSC Ensembl
Innerchr1:96034713..96034721hg38UCSC Ensembl
Outerchr1:96034695..96034741hg38UCSC Ensembl
chr1:96500265..96500283hg19UCSC Ensembl
Innerchr1:96500269..96500277hg19UCSC Ensembl
Outerchr1:96500251..96500297hg19UCSC Ensembl
chr1:96272853..96272871hg18UCSC Ensembl
Innerchr1:96272865..96272857hg18UCSC Ensembl
Outerchr1:96272839..96272885hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3351918
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674167
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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