A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585723



Internal ID6626038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35627175..35641806hg38UCSC Ensembl
Innerchr1:35627175..35641806hg38UCSC Ensembl
Outerchr1:35626675..35642306hg38UCSC Ensembl
chr1:36092776..36107407hg19UCSC Ensembl
Innerchr1:36092776..36107407hg19UCSC Ensembl
Outerchr1:36092276..36107907hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3814632
hg1914632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9901842
SamplesHG02088
Known GenesPSMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585723
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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