A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591811



Internal ID6979139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103776527..103790700hg38UCSC Ensembl
Innerchr2:103776527..103790700hg38UCSC Ensembl
Outerchr2:103776484..103790771hg38UCSC Ensembl
chr2:104392985..104407158hg19UCSC Ensembl
Innerchr2:104392985..104407158hg19UCSC Ensembl
Outerchr2:104392942..104407229hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3814174
hg1914174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598582
SamplesNA19099
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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