A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594535



Internal ID6981855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227372839..227378639hg38UCSC Ensembl
Innerchr2:227372839..227378639hg38UCSC Ensembl
Outerchr2:227372709..227378792hg38UCSC Ensembl
chr2:228237555..228243355hg19UCSC Ensembl
Innerchr2:228237555..228243355hg19UCSC Ensembl
Outerchr2:228237425..228243508hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870266
SamplesHG04202
Known GenesTM4SF20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594535
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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