A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593993



Internal ID6634270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202326405..202340459hg38UCSC Ensembl
Innerchr2:202326905..202339959hg38UCSC Ensembl
Outerchr2:202325405..202341459hg38UCSC Ensembl
chr2:203191128..203205182hg19UCSC Ensembl
Innerchr2:203191628..203204682hg19UCSC Ensembl
Outerchr2:203190128..203206182hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3814055
hg1914055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10824586
SamplesHG03240
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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