A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593992



Internal ID6634269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202259848..202268118hg38UCSC Ensembl
Innerchr2:202259848..202268118hg38UCSC Ensembl
Outerchr2:202259348..202268618hg38UCSC Ensembl
chr2:203124571..203132841hg19UCSC Ensembl
Innerchr2:203124571..203132841hg19UCSC Ensembl
Outerchr2:203124071..203133341hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388271
hg198271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10824585
SamplesHG01600
Known GenesNOP58
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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