A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10206740



Internal ID4198677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181193221..181197694hg38UCSC Ensembl
Innerchr1:181193225..181197690hg38UCSC Ensembl
Outerchr1:181193217..181197698hg38UCSC Ensembl
chr1:181162357..181166830hg19UCSC Ensembl
Innerchr1:181162361..181166826hg19UCSC Ensembl
Outerchr1:181162353..181166834hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384474
hg194474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588080
Supporting Variants
SamplesHG03784
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10206740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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