A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594712



Internal ID6634988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235572401..235598173hg38UCSC Ensembl
Innerchr2:235572401..235598173hg38UCSC Ensembl
Outerchr2:235571901..235598673hg38UCSC Ensembl
chr2:236481045..236506817hg19UCSC Ensembl
Innerchr2:236481045..236506817hg19UCSC Ensembl
Outerchr2:236480545..236507317hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3825773
hg1925773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10883523, essv10883522
SamplesHG01761, HG00182
Known GenesAGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594712
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer