A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589504



Internal ID6629793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247067659..247086681hg38UCSC Ensembl
Innerchr1:247067720..247086621hg38UCSC Ensembl
Outerchr1:247067599..247086742hg38UCSC Ensembl
chr1:247230961..247249983hg19UCSC Ensembl
Innerchr1:247231022..247249923hg19UCSC Ensembl
Outerchr1:247230901..247250044hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3819023
hg1919023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373446, essv10373447
SamplesNA18532, NA20863
Known GenesZNF670, ZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589504
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