A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10026800



Internal ID5925712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:98232868..98240444hg38UCSC Ensembl
Innerchr1:98232868..98240444hg38UCSC Ensembl
Outerchr1:98232692..98240673hg38UCSC Ensembl
chr1:98698424..98706000hg19UCSC Ensembl
Innerchr1:98698424..98706000hg19UCSC Ensembl
Outerchr1:98698248..98706229hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg387577
hg197577
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586898
Supporting Variants
SamplesNA19334
Known GenesLOC729987
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10026800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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