A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10065879



Internal ID67695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111298539..111338341hg38UCSC Ensembl
Innerchr1:111299039..111337841hg38UCSC Ensembl
Outerchr1:111297539..111339341hg38UCSC Ensembl
chr1:111841161..111880963hg19UCSC Ensembl
Innerchr1:111841661..111880463hg19UCSC Ensembl
Outerchr1:111840161..111881963hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3839803
hg1939803
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587181
Supporting Variants
SamplesNA12830
Known GenesCHIA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10065879
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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