A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592665



Internal ID6979992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:139438603..139452797hg38UCSC Ensembl
Innerchr2:139438620..139452781hg38UCSC Ensembl
Outerchr2:139438587..139452814hg38UCSC Ensembl
chr2:140196173..140210367hg19UCSC Ensembl
Innerchr2:140196190..140210351hg19UCSC Ensembl
Outerchr2:140196157..140210384hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3814195
hg1914195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10690043
SamplesHG02716
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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