A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10653555



Internal ID4454349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123376577..123478582hg38UCSC Ensembl
Innerchr2:123376577..123478582hg38UCSC Ensembl
Outerchr2:123376077..123479082hg38UCSC Ensembl
chr2:124134153..124236158hg19UCSC Ensembl
Innerchr2:124134153..124236158hg19UCSC Ensembl
Outerchr2:124133653..124236658hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38102006
hg19102006
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592265
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10653555
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