A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598587



Internal ID2472254
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591815
Supporting Variants
SamplesHG02180
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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