A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609029



Internal ID6995952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:53613671..53615819hg38UCSC Ensembl
Innerchr6:53613671..53615819hg38UCSC Ensembl
Outerchr6:53613425..53616046hg38UCSC Ensembl
chr6:53478469..53480617hg19UCSC Ensembl
Innerchr6:53478469..53480617hg19UCSC Ensembl
Outerchr6:53478223..53480844hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382149
hg192149
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12355273, essv12355274
SamplesHG01625, HG00111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609029
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer