A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591815



Internal ID6979143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104291598..104307543hg38UCSC Ensembl
Innerchr2:104291598..104307543hg38UCSC Ensembl
Outerchr2:104291098..104308043hg38UCSC Ensembl
chr2:104908056..104924001hg19UCSC Ensembl
Innerchr2:104908056..104924001hg19UCSC Ensembl
Outerchr2:104907556..104924501hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3815946
hg1915946
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10598586, essv10598587, essv10598588
SamplesHG01046, HG02180, HG02397
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591815
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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