A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16306964



Internal ID1146067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:28232783..28251377hg38UCSC Ensembl
Innerchr21:28232783..28251377hg38UCSC Ensembl
Outerchr21:28232283..28251877hg38UCSC Ensembl
chr21:29605102..29623696hg19UCSC Ensembl
Innerchr21:29605102..29623696hg19UCSC Ensembl
Outerchr21:29604602..29624196hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3818595
hg1918595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646780
Supporting Variants
SamplesHG00978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16306964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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