A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12386788



Internal ID2388604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61471934..61543261hg38UCSC Ensembl
Innerchr6:61471971..61543225hg38UCSC Ensembl
Outerchr6:61471898..61543298hg38UCSC Ensembl
chr6:62181839..62253166hg19UCSC Ensembl
Innerchr6:62181876..62253130hg19UCSC Ensembl
Outerchr6:62181803..62253203hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3871328
hg1971328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609201
Supporting Variants
SamplesHG02048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12386788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer