A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11023444



Internal ID1724361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59387064..59391660hg38UCSC Ensembl
Innerchr3:59387090..59391635hg38UCSC Ensembl
Outerchr3:59387039..59391686hg38UCSC Ensembl
chr3:59372790..59377386hg19UCSC Ensembl
Innerchr3:59372816..59377361hg19UCSC Ensembl
Outerchr3:59372765..59377412hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384597
hg194597
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596274
Supporting Variants
SamplesHG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11023444
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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