A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599229



Internal ID6986277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:195034172..195034875hg38UCSC Ensembl
Innerchr3:195034172..195034875hg38UCSC Ensembl
Outerchr3:195033881..195035124hg38UCSC Ensembl
chr3:194754901..194755604hg19UCSC Ensembl
Innerchr3:194754901..194755604hg19UCSC Ensembl
Outerchr3:194754610..194755853hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38704
hg19704
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11287488, essv11287494, essv11287487, essv11287489, essv11287477, essv11287475, essv11287481, essv11287476, essv11287478, essv11287486, essv11287482, essv11287484, essv11287480, essv11287495, essv11287492, essv11287485, essv11287490, essv11287493, essv11287479, essv11287491, essv11287473, essv11287483, essv11287474
SamplesHG02890, HG02944, HG03163, HG03115, NA19443, NA19379, HG02854, HG03520, HG02634, HG03045, HG03136, HG03476, HG03446, HG03109, HG02484, NA19436, NA19375, NA18909, HG01915, NA19310, HG02558, HG02974, HG02013
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599229
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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