A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586185



Internal ID6626498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59577423..59582139hg38UCSC Ensembl
Innerchr1:59577430..59582133hg38UCSC Ensembl
Outerchr1:59577417..59582146hg38UCSC Ensembl
chr1:60043095..60047811hg19UCSC Ensembl
Innerchr1:60043102..60047805hg19UCSC Ensembl
Outerchr1:60043089..60047818hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg384717
hg194717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9943933, essv9943932, essv9943930, essv9943927, essv9943935, essv9943931, essv9943934, essv9943929, essv9943928
SamplesHG02946, NA19184, HG02982, HG02585, HG03681, NA19238, NA19119, HG01779, HG02485
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586185
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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