A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10689897



Internal ID691713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138894525..138900390hg38UCSC Ensembl
Innerchr2:138894565..138900351hg38UCSC Ensembl
Outerchr2:138894486..138900430hg38UCSC Ensembl
chr2:139652095..139657960hg19UCSC Ensembl
Innerchr2:139652135..139657921hg19UCSC Ensembl
Outerchr2:139652056..139658000hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385866
hg195866
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592648
Supporting Variants
SamplesHG02223
Known GenesYY1P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10689897
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