A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3421424



Internal ID15268382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95938198..95938213hg38UCSC Ensembl
Innerchr1:95938195..95938216hg38UCSC Ensembl
Outerchr1:95938180..95938231hg38UCSC Ensembl
chr1:96403754..96403769hg19UCSC Ensembl
Innerchr1:96403751..96403772hg19UCSC Ensembl
Outerchr1:96403736..96403787hg19UCSC Ensembl
chr1:96176342..96176357hg18UCSC Ensembl
Innerchr1:96176360..96176339hg18UCSC Ensembl
Outerchr1:96176324..96176375hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38283
hg19283
hg18283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8900240, essv8900244, essv8900243, essv8900239, essv8900236, essv8900241, essv8900242, essv8900246, essv8900247, essv8900238, essv8900245
SamplesNA18502, NA18508, NA18507, NA18870, NA18520, NA18871, NA18499, NA19225, NA18523, NA19093, NA19116
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3421424
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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