A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594766



Internal ID6982086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238564767..238566523hg38UCSC Ensembl
Innerchr2:238564768..238566522hg38UCSC Ensembl
Outerchr2:238564766..238566524hg38UCSC Ensembl
chr2:239473408..239475164hg19UCSC Ensembl
Innerchr2:239473409..239475163hg19UCSC Ensembl
Outerchr2:239473407..239475165hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381757
hg191757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10887618, essv10887619
SamplesHG02151, HG02178
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594766
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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