A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10672880



Internal ID1463897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130316828..130342652hg38UCSC Ensembl
chr2:131074401..131100225hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3825825
hg1925825
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592452
Supporting Variants
SamplesHG01353
Known GenesCCDC115
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10672880
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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