A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599064



Internal ID6639329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190120192..190123347hg38UCSC Ensembl
Innerchr3:190120192..190123347hg38UCSC Ensembl
Outerchr3:190119692..190123847hg38UCSC Ensembl
chr3:189837981..189841136hg19UCSC Ensembl
Innerchr3:189837981..189841136hg19UCSC Ensembl
Outerchr3:189837481..189841636hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383156
hg193156
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11268545, essv11268559, essv11268556, essv11268554, essv11268549, essv11268552, essv11268561, essv11268550, essv11268562, essv11268548, essv11268553, essv11268558, essv11268557, essv11268555, essv11268547, essv11268546, essv11268551, essv11268560
SamplesHG03121, HG03297, NA18519, NA19916, HG03209, NA19172, HG02882, HG02716, HG03132, HG02953, HG02307, NA19461, HG03388, NA19093, HG01085, NA19185, HG02051, NA19431
Known GenesLEPREL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599064
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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