A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079253



Internal ID5036900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113765669..113790681hg38UCSC Ensembl
chr1:114308291..114333303hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3825013
hg1925013
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587247
Supporting Variants
SamplesNA18523
Known GenesRSBN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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