A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585384



Internal ID6625703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18233705..18236996hg38UCSC Ensembl
Innerchr1:18233765..18236937hg38UCSC Ensembl
Outerchr1:18233646..18237056hg38UCSC Ensembl
chr1:18560199..18563490hg19UCSC Ensembl
Innerchr1:18560259..18563431hg19UCSC Ensembl
Outerchr1:18560140..18563550hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383292
hg193292
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9876437
SamplesHG01796
Known GenesIGSF21
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585384
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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