A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12190033



Internal ID5640197
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608112
Supporting Variants
SamplesNA19062
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12190033
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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