A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10434984



Internal ID2288355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27300759..27304150hg38UCSC Ensembl
Innerchr2:27300764..27304145hg38UCSC Ensembl
Outerchr2:27300754..27304155hg38UCSC Ensembl
chr2:27523627..27527018hg19UCSC Ensembl
Innerchr2:27523632..27527013hg19UCSC Ensembl
Outerchr2:27523622..27527023hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383392
hg193392
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590134
Supporting Variants
SamplesHG02048
Known GenesTRIM54
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10434984
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