A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608112



Internal ID6995042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12478667..12483199hg38UCSC Ensembl
Innerchr6:12478669..12483198hg38UCSC Ensembl
Outerchr6:12478666..12483201hg38UCSC Ensembl
chr6:12478899..12483431hg19UCSC Ensembl
Innerchr6:12478901..12483430hg19UCSC Ensembl
Outerchr6:12478898..12483433hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg384533
hg194533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12190031, essv12190033, essv12190032, essv12190034
SamplesNA19066, NA18962, NA19062, NA19003
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608112
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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