A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10832956



Internal ID5825667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208112819..208121641hg38UCSC Ensembl
chr2:208977543..208986365hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388823
hg198823
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594106
Supporting Variants
SamplesNA19201
Known GenesCRYGD, LOC100507443
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10832956
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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