A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10436672



Internal ID438488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27503024..27504759hg38UCSC Ensembl
Innerchr2:27503050..27504733hg38UCSC Ensembl
Outerchr2:27502998..27504785hg38UCSC Ensembl
chr2:27725891..27727626hg19UCSC Ensembl
Innerchr2:27725917..27727600hg19UCSC Ensembl
Outerchr2:27725865..27727652hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381736
hg191736
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590140
Supporting Variants
SamplesHG01537
Known GenesGCKR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10436672
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