A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10742700



Internal ID744516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162204243..162287181hg38UCSC Ensembl
chr2:163060753..163143691hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3882939
hg1982939
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593177
Supporting Variants
SamplesNA19355
Known GenesFAP, IFIH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10742700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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