A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264966



Internal ID266782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200847299..200921874hg38UCSC Ensembl
chr1:200816427..200891002hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3874576
hg1974576
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588563
Supporting Variants
SamplesHG01936
Known GenesC1orf106, CAMSAP2, GPR25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264966
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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