A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10113674



Internal ID115490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145824369..145905171hg38UCSC Ensembl
chr1:145529907..145610744hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3880803
hg1980838
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587420
Supporting Variants
SamplesNA21095
Known GenesANKRD35, ITGA10, LOC100288142, MIR6736, NBPF10, NUDT17, PIAS3, POLR3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10113674
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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