A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10023746



Internal ID4993018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94663460..94689566hg38UCSC Ensembl
Innerchr1:94663460..94689566hg38UCSC Ensembl
Outerchr1:94663231..94689790hg38UCSC Ensembl
chr1:95129016..95155122hg19UCSC Ensembl
Innerchr1:95129016..95155122hg19UCSC Ensembl
Outerchr1:95128787..95155346hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3826107
hg1926107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586840
Supporting Variants
SamplesNA18498
Known GenesLINC01057
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10023746
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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