A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10008183



Internal ID4817395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86262842..86292265hg38UCSC Ensembl
Innerchr1:86262861..86292247hg38UCSC Ensembl
Outerchr1:86262824..86292284hg38UCSC Ensembl
chr1:86728525..86757948hg19UCSC Ensembl
Innerchr1:86728544..86757930hg19UCSC Ensembl
Outerchr1:86728507..86757967hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3829424
hg1929424
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586697
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10008183
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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