A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682889



Internal ID5584696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134793433..134795185hg38UCSC Ensembl
Innerchr2:134793462..134795156hg38UCSC Ensembl
Outerchr2:134793404..134795214hg38UCSC Ensembl
chr2:135551003..135552755hg19UCSC Ensembl
Innerchr2:135551032..135552726hg19UCSC Ensembl
Outerchr2:135550974..135552784hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592563
Supporting Variants
SamplesNA19025
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682889
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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