A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12378569



Internal ID1060345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:60554346..60966729hg38UCSC Ensembl
Innerchr6:60554417..60966658hg38UCSC Ensembl
Outerchr6:60554275..60966800hg38UCSC Ensembl
chr6:57522093..57934476hg19UCSC Ensembl
Innerchr6:57522164..57934405hg19UCSC Ensembl
Outerchr6:57522022..57934547hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38412384
hg19412384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609144
Supporting Variants
SamplesHG00684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12378569
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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