A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586368



Internal ID6626681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70887121..70900743hg38UCSC Ensembl
Innerchr1:70887123..70900742hg38UCSC Ensembl
Outerchr1:70887120..70900745hg38UCSC Ensembl
chr1:71352804..71366426hg19UCSC Ensembl
Innerchr1:71352806..71366425hg19UCSC Ensembl
Outerchr1:71352803..71366428hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813623
hg1913623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv22e214
Supporting Variantsessv9964786, essv9964785
SamplesNA21124, NA20908
Known GenesPTGER3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586368
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