A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594637



Internal ID6981957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231979357..231983098hg38UCSC Ensembl
Innerchr2:231979375..231983080hg38UCSC Ensembl
Outerchr2:231979339..231983116hg38UCSC Ensembl
chr2:232844067..232847808hg19UCSC Ensembl
Innerchr2:232844085..232847790hg19UCSC Ensembl
Outerchr2:232844049..232847826hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383742
hg193742
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10876687, essv10876688, essv10876686
SamplesNA19175, NA19113, HG02923
Known GenesDIS3L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594637
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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