A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608251



Internal ID6995181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:18754339..18759675hg38UCSC Ensembl
Innerchr6:18754389..18759625hg38UCSC Ensembl
Outerchr6:18754219..18759795hg38UCSC Ensembl
chr6:18754570..18759906hg19UCSC Ensembl
Innerchr6:18754620..18759856hg19UCSC Ensembl
Outerchr6:18754450..18760026hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385337
hg195337
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1168e214
Supporting Variantsessv12211245, essv12211246, essv12211247
SamplesNA19235, NA19788, NA20801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608251
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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