A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588086



Internal ID6628386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181535803..181541864hg38UCSC Ensembl
Innerchr1:181535820..181541848hg38UCSC Ensembl
Outerchr1:181535787..181541881hg38UCSC Ensembl
chr1:181504939..181511000hg19UCSC Ensembl
Innerchr1:181504956..181510984hg19UCSC Ensembl
Outerchr1:181504923..181511017hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg386062
hg196062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10206759
SamplesHG03455
Known GenesCACNA1E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588086
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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