A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145892



Internal ID5943472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152080623..152081698hg38UCSC Ensembl
Innerchr1:152080633..152081688hg38UCSC Ensembl
Outerchr1:152080613..152081708hg38UCSC Ensembl
chr1:152053099..152054174hg19UCSC Ensembl
Innerchr1:152053109..152054164hg19UCSC Ensembl
Outerchr1:152053089..152054184hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587541
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145892
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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