A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10875227



Internal ID877043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230794241..230797540hg38UCSC Ensembl
Innerchr2:230794241..230797540hg38UCSC Ensembl
Outerchr2:230794023..230797736hg38UCSC Ensembl
chr2:231658956..231662255hg19UCSC Ensembl
Innerchr2:231658956..231662255hg19UCSC Ensembl
Outerchr2:231658738..231662451hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594612
Supporting Variants
SamplesHG00139
Known GenesCAB39
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10875227
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