A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9874572



Internal ID6499865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17077448..17111045hg38UCSC Ensembl
chr1:17403943..17437540hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3833598
hg1933598
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585359
Supporting Variants
SamplesHG01935
Known GenesPADI2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9874572
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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