A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10309266



Internal ID4814124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226188136..226196770hg38UCSC Ensembl
Innerchr1:226188636..226196270hg38UCSC Ensembl
Outerchr1:226187136..226197770hg38UCSC Ensembl
chr1:226375837..226384471hg19UCSC Ensembl
Innerchr1:226376337..226383971hg19UCSC Ensembl
Outerchr1:226374837..226385471hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg388635
hg198635
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589010
Supporting Variants
SamplesNA12004
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10309266
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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