A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588460



Internal ID6975877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196218756..196256830hg38UCSC Ensembl
chr1:196187886..196225960hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3838075
hg1938075
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10246753, essv10246754
SamplesHG03753, HG02681
Known GenesKCNT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588460
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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