A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9844464



Internal ID6764180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3935264..3941914hg38UCSC Ensembl
chr1:3995323..4001974hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg386651
hg196652
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585054
Supporting Variants
SamplesNA20872
Known GenesLOC728716
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9844464
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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