A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12312854



Internal ID698951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34434547..34440459hg38UCSC Ensembl
Innerchr6:34434622..34440385hg38UCSC Ensembl
Outerchr6:34434473..34440534hg38UCSC Ensembl
chr6:34402324..34408236hg19UCSC Ensembl
Innerchr6:34402399..34408162hg19UCSC Ensembl
Outerchr6:34402250..34408311hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg385913
hg195913
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608660
Supporting Variants
SamplesHG00328
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12312854
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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