A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10632456



Internal ID2630423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113562128..113579736hg38UCSC Ensembl
chr2:114319705..114337313hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3817609
hg1917609
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592025
Supporting Variants
SamplesHG02325
Known GenesFAM138B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10632456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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