A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594099



Internal ID6981419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207800112..207802348hg38UCSC Ensembl
Innerchr2:207800112..207802348hg38UCSC Ensembl
Outerchr2:207799967..207802543hg38UCSC Ensembl
chr2:208664836..208667072hg19UCSC Ensembl
Innerchr2:208664836..208667072hg19UCSC Ensembl
Outerchr2:208664691..208667267hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382237
hg192237
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832800, essv10832801
SamplesHG00334, HG01124
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594099
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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