A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9925723



Internal ID6510180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45301218..45302896hg38UCSC Ensembl
Innerchr1:45301255..45302860hg38UCSC Ensembl
Outerchr1:45301182..45302933hg38UCSC Ensembl
chr1:45766890..45768568hg19UCSC Ensembl
Innerchr1:45766927..45768532hg19UCSC Ensembl
Outerchr1:45766854..45768605hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg381679
hg191679
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585904
Supporting Variants
SamplesNA20536
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9925723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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