A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10993246



Internal ID1852419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44185301..44187568hg38UCSC Ensembl
Innerchr3:44185301..44187568hg38UCSC Ensembl
Outerchr3:44185073..44187852hg38UCSC Ensembl
chr3:44226793..44229060hg19UCSC Ensembl
Innerchr3:44226793..44229060hg19UCSC Ensembl
Outerchr3:44226565..44229344hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382268
hg192268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596030
Supporting Variants
SamplesHG01747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10993246
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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