A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10481748



Internal ID2100654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43245244..43248301hg38UCSC Ensembl
Innerchr2:43245310..43248235hg38UCSC Ensembl
Outerchr2:43245178..43248367hg38UCSC Ensembl
chr2:43472383..43475440hg19UCSC Ensembl
Innerchr2:43472449..43475374hg19UCSC Ensembl
Outerchr2:43472317..43475506hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383058
hg193058
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590524
Supporting Variants
SamplesHG01914
Known GenesTHADA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10481748
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