A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434978



Internal ID436794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26989911..26991030hg38UCSC Ensembl
Innerchr2:26989961..26990980hg38UCSC Ensembl
Outerchr2:26989861..26991080hg38UCSC Ensembl
chr2:27212779..27213898hg19UCSC Ensembl
Innerchr2:27212829..27213848hg19UCSC Ensembl
Outerchr2:27212729..27213948hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381120
hg191120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590131
Supporting Variants
SamplesNA20521
Known GenesMAPRE3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434978
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