A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605191



Internal ID6992219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60529224..60534544hg38UCSC Ensembl
Innerchr5:60529245..60534524hg38UCSC Ensembl
Outerchr5:60529204..60534565hg38UCSC Ensembl
chr5:59825051..59830371hg19UCSC Ensembl
Innerchr5:59825072..59830351hg19UCSC Ensembl
Outerchr5:59825031..59830392hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg385321
hg195321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11922111, essv11922112, essv11922114, essv11922113
SamplesHG00306, HG03793, HG03897, NA18994
Known GenesPART1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605191
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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