A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587427



Internal ID6627731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148151364..148233918hg38UCSC Ensembl
chr1:146081807..146164363hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3882555
hg1982557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv46e214
Supporting Variantsessv10116204
SamplesHG03511
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF11, NBPF24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587427
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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