A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592043



Internal ID6979370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:114365795..114412175hg38UCSC Ensembl
Innerchr2:114365795..114412175hg38UCSC Ensembl
Outerchr2:114365295..114412675hg38UCSC Ensembl
chr2:115123372..115169752hg19UCSC Ensembl
Innerchr2:115123372..115169752hg19UCSC Ensembl
Outerchr2:115122872..115170252hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3846381
hg1946381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10632584
SamplesHG03949
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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