A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434761



Internal ID436577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26627742..26630346hg38UCSC Ensembl
Innerchr2:26627761..26630327hg38UCSC Ensembl
Outerchr2:26627723..26630365hg38UCSC Ensembl
chr2:26850610..26853214hg19UCSC Ensembl
Innerchr2:26850629..26853195hg19UCSC Ensembl
Outerchr2:26850591..26853233hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382605
hg192605
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590125
Supporting Variants
SamplesHG02085
Known GenesCIB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434761
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