A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585425



Internal ID6625744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20606037..20607250hg38UCSC Ensembl
Innerchr1:20606070..20607217hg38UCSC Ensembl
Outerchr1:20606004..20607283hg38UCSC Ensembl
chr1:20932530..20933743hg19UCSC Ensembl
Innerchr1:20932563..20933710hg19UCSC Ensembl
Outerchr1:20932497..20933776hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381214
hg191214
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9882183, essv9882181, essv9882180, essv9882178, essv9882184, essv9882185, essv9882182, essv9882179
SamplesHG02072, NA18561, NA18574, HG02981, HG01046, HG03951, NA18517, HG00581
Known GenesCDA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585425
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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