A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280342



Internal ID282158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207630455..207727138hg38UCSC Ensembl
chr1:207803800..207900483hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3896684
hg1996684
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588674
Supporting Variants
SamplesNA19725
Known GenesCR1, CR1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280342
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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