A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10331749



Internal ID6934852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234740254..234742370hg38UCSC Ensembl
Innerchr1:234740317..234742308hg38UCSC Ensembl
Outerchr1:234740192..234742433hg38UCSC Ensembl
chr1:234876001..234878117hg19UCSC Ensembl
Innerchr1:234876064..234878055hg19UCSC Ensembl
Outerchr1:234875939..234878180hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg382117
hg192117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589179
Supporting Variants
SamplesNA21124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10331749
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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