A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9956810



Internal ID4868931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65310724..65331472hg38UCSC Ensembl
chr1:65776407..65797155hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3820749
hg1920749
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586279
Supporting Variants
SamplesNA12340
Known GenesDNAJC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9956810
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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