A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832968



Internal ID385613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208216023..208222029hg38UCSC Ensembl
Innerchr2:208216523..208221529hg38UCSC Ensembl
Outerchr2:208215023..208223029hg38UCSC Ensembl
chr2:209080747..209086753hg19UCSC Ensembl
Innerchr2:209081247..209086253hg19UCSC Ensembl
Outerchr2:209079747..209087753hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594110
Supporting Variants
SamplesHG00112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832968
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