A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594717



Internal ID6634993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:235913955..235918254hg38UCSC Ensembl
Innerchr2:235913955..235918254hg38UCSC Ensembl
Outerchr2:235913910..235918307hg38UCSC Ensembl
chr2:236822599..236826898hg19UCSC Ensembl
Innerchr2:236822599..236826898hg19UCSC Ensembl
Outerchr2:236822554..236826951hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg384300
hg194300
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10883561
SamplesHG02613
Known GenesAGAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594717
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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