A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10785695



Internal ID1457154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:180522988..180528274hg38UCSC Ensembl
Innerchr2:180523000..180528263hg38UCSC Ensembl
Outerchr2:180522977..180528286hg38UCSC Ensembl
chr2:181387715..181393001hg19UCSC Ensembl
Innerchr2:181387727..181392990hg19UCSC Ensembl
Outerchr2:181387704..181393013hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg385287
hg195287
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593529
Supporting Variants
SamplesHG01348
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10785695
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