A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7294567



Internal ID10572849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200826627..200826720hg38UCSC Ensembl
chr2:201691350..201691443hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3025000
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7294567
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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