A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10868433



Internal ID1264516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226090222..226097471hg38UCSC Ensembl
chr2:226954938..226962187hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594507
Supporting Variants
SamplesHG01111
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10868433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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