A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12649652



Internal ID4420899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170043495..170048372hg38UCSC Ensembl
Innerchr6:170043511..170048356hg38UCSC Ensembl
Outerchr6:170043479..170048388hg38UCSC Ensembl
chr6:170358719..170363596hg19UCSC Ensembl
Innerchr6:170358735..170363580hg19UCSC Ensembl
Outerchr6:170358703..170363612hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384878
hg194878
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611724
Supporting Variants
SamplesHG03937
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12649652
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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