A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596035



Internal ID6983353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44496707..44498448hg38UCSC Ensembl
Innerchr3:44496707..44498448hg38UCSC Ensembl
Outerchr3:44496537..44498611hg38UCSC Ensembl
chr3:44538199..44539940hg19UCSC Ensembl
Innerchr3:44538199..44539940hg19UCSC Ensembl
Outerchr3:44538029..44540103hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10993613
SamplesHG00329
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596035
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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