A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598920



Internal ID6639185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183134680..183205635hg38UCSC Ensembl
Innerchr3:183134830..183205485hg38UCSC Ensembl
Outerchr3:183134530..183205785hg38UCSC Ensembl
chr3:182852468..182923423hg19UCSC Ensembl
Innerchr3:182852618..182923273hg19UCSC Ensembl
Outerchr3:182852318..182923573hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3870956
hg1970956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv960e214
Supporting Variantsessv11253012, essv11253013
SamplesHG03061, NA19390
Known GenesLAMP3, MCF2L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598920
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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