A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12210230



Internal ID6902613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18401900..18402216hg38UCSC Ensembl
Innerchr6:18401930..18402187hg38UCSC Ensembl
Outerchr6:18401871..18402246hg38UCSC Ensembl
chr6:18402131..18402447hg19UCSC Ensembl
Innerchr6:18402161..18402418hg19UCSC Ensembl
Outerchr6:18402102..18402477hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608241
Supporting Variants
SamplesNA21110
Known GenesRNF144B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12210230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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