A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587703



Internal ID6628004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159834085..159837884hg38UCSC Ensembl
chr1:159803875..159807674hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10166341, essv10166340
SamplesHG01694, NA19438
Known GenesC1orf204, SLAMF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587703
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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