A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606673



Internal ID6993608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126215612..126230610hg38UCSC Ensembl
Innerchr5:126215623..126230599hg38UCSC Ensembl
Outerchr5:126215601..126230621hg38UCSC Ensembl
chr5:125551305..125566303hg19UCSC Ensembl
Innerchr5:125551316..125566292hg19UCSC Ensembl
Outerchr5:125551294..125566314hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3814999
hg1914999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12050650
SamplesHG00422
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606673
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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