A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586520



Internal ID6974040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77308819..77315915hg38UCSC Ensembl
Innerchr1:77308819..77315915hg38UCSC Ensembl
Outerchr1:77308499..77316219hg38UCSC Ensembl
chr1:77774504..77781600hg19UCSC Ensembl
Innerchr1:77774504..77781600hg19UCSC Ensembl
Outerchr1:77774184..77781904hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387097
hg197097
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9980945, essv9980943, essv9980942, essv9980936, essv9980946, essv9980944, essv9980933, essv9980935, essv9980941, essv9980947, essv9980950, essv9980949, essv9980940, essv9980951, essv9980934, essv9980937, essv9980939, essv9980938, essv9980948
SamplesNA19141, HG03484, NA18861, NA20294, HG03577, HG02589, HG03572, HG03048, HG03388, HG02666, NA18523, HG02722, HG02759, HG02837, HG03103, HG03442, HG02970, NA19713, HG02013
Known GenesAK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586520
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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