A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841028



Internal ID6466321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1677771..1684388hg38UCSC Ensembl
chr1:1609210..1615827hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg386618
hg196618
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585011
Supporting Variants
SamplesHG01441
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841028
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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