A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10433247



Internal ID435063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26080109..26083580hg38UCSC Ensembl
Innerchr2:26080125..26083565hg38UCSC Ensembl
Outerchr2:26080094..26083596hg38UCSC Ensembl
chr2:26302978..26306449hg19UCSC Ensembl
Innerchr2:26302994..26306434hg19UCSC Ensembl
Outerchr2:26302963..26306465hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383472
hg193472
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590108
Supporting Variants
SamplesNA19184
Known GenesRAB10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10433247
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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