A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188430



Internal ID190246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:172302701..172308161hg38UCSC Ensembl
Innerchr1:172302751..172308111hg38UCSC Ensembl
Outerchr1:172302651..172308211hg38UCSC Ensembl
chr1:172271841..172277301hg19UCSC Ensembl
Innerchr1:172271891..172277251hg19UCSC Ensembl
Outerchr1:172271791..172277351hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385461
hg195461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587922
Supporting Variants
SamplesNA18748
Known GenesDNM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188430
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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