A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10296923



Internal ID4418298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:218921497..218923664hg38UCSC Ensembl
Innerchr1:218921506..218923655hg38UCSC Ensembl
Outerchr1:218921488..218923673hg38UCSC Ensembl
chr1:219094839..219097006hg19UCSC Ensembl
Innerchr1:219094848..219096997hg19UCSC Ensembl
Outerchr1:219094830..219097015hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382168
hg192168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588876
Supporting Variants
SamplesHG03934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10296923
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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