A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605226



Internal ID6992250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62128460..62175209hg38UCSC Ensembl
Innerchr5:62128515..62175155hg38UCSC Ensembl
Outerchr5:62128406..62175264hg38UCSC Ensembl
chr5:61424287..61471036hg19UCSC Ensembl
Innerchr5:61424342..61470982hg19UCSC Ensembl
Outerchr5:61424233..61471091hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3846750
hg1946750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11925321
SamplesHG01280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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