A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10312417



Internal ID3711522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228185903..228192519hg38UCSC Ensembl
Innerchr1:228185918..228192505hg38UCSC Ensembl
Outerchr1:228185889..228192534hg38UCSC Ensembl
chr1:228373604..228380220hg19UCSC Ensembl
Innerchr1:228373619..228380206hg19UCSC Ensembl
Outerchr1:228373590..228380235hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg386617
hg196617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589047
Supporting Variants
SamplesHG03313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10312417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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