A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608117



Internal ID6648356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12828336..12829771hg38UCSC Ensembl
Innerchr6:12828336..12829771hg38UCSC Ensembl
Outerchr6:12828279..12829838hg38UCSC Ensembl
chr6:12828568..12830003hg19UCSC Ensembl
Innerchr6:12828568..12830003hg19UCSC Ensembl
Outerchr6:12828511..12830070hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381436
hg191436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12190046
SamplesHG01177
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608117
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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