A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12200607



Internal ID6810122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16042623..16043887hg38UCSC Ensembl
Innerchr6:16042623..16043887hg38UCSC Ensembl
Outerchr6:16042426..16044178hg38UCSC Ensembl
chr6:16042854..16044118hg19UCSC Ensembl
Innerchr6:16042854..16044118hg19UCSC Ensembl
Outerchr6:16042657..16044409hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608186
Supporting Variants
SamplesNA20894
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12200607
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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