A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10726939



Internal ID2775602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158425913..158429219hg38UCSC Ensembl
Innerchr2:158425913..158429219hg38UCSC Ensembl
Outerchr2:158425413..158429719hg38UCSC Ensembl
chr2:159282425..159285731hg19UCSC Ensembl
Innerchr2:159282425..159285731hg19UCSC Ensembl
Outerchr2:159281925..159286231hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383307
hg193307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593076
Supporting Variants
SamplesHG02449
Known GenesCCDC148
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10726939
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