A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591813



Internal ID6979141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103929211..103933420hg38UCSC Ensembl
Innerchr2:103929214..103933418hg38UCSC Ensembl
Outerchr2:103929209..103933423hg38UCSC Ensembl
chr2:104545669..104549878hg19UCSC Ensembl
Innerchr2:104545672..104549876hg19UCSC Ensembl
Outerchr2:104545667..104549881hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg384210
hg194210
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598584
SamplesHG00472
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591813
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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