A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593327



Internal ID6980651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169646364..169650484hg38UCSC Ensembl
Innerchr2:169646373..169650475hg38UCSC Ensembl
Outerchr2:169646355..169650493hg38UCSC Ensembl
chr2:170502874..170506994hg19UCSC Ensembl
Innerchr2:170502883..170506985hg19UCSC Ensembl
Outerchr2:170502865..170507003hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg384121
hg194121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10757503
SamplesNA20886
Known GenesCCDC173
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593327
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