A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595089



Internal ID6635364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4130643..4271936hg38UCSC Ensembl
Innerchr3:4130655..4271925hg38UCSC Ensembl
Outerchr3:4130632..4271948hg38UCSC Ensembl
chr3:4172327..4313620hg19UCSC Ensembl
Innerchr3:4172339..4313609hg19UCSC Ensembl
Outerchr3:4172316..4313632hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38141294
hg19141294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10903671, essv10903670, essv10903668, essv10903669
SamplesHG03814, NA18557, HG02221, NA19779
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595089
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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