A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9956934



Internal ID3504828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65575243..65578202hg38UCSC Ensembl
Innerchr1:65575248..65578197hg38UCSC Ensembl
Outerchr1:65575238..65578207hg38UCSC Ensembl
chr1:66040926..66043885hg19UCSC Ensembl
Innerchr1:66040931..66043880hg19UCSC Ensembl
Outerchr1:66040921..66043890hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382960
hg192960
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586286
Supporting Variants
SamplesHG03111
Known GenesLEPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9956934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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