A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588617



Internal ID6628908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204346254..204347719hg38UCSC Ensembl
Innerchr1:204346254..204347719hg38UCSC Ensembl
Outerchr1:204345930..204348085hg38UCSC Ensembl
chr1:204315382..204316847hg19UCSC Ensembl
Innerchr1:204315382..204316847hg19UCSC Ensembl
Outerchr1:204315058..204317213hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381466
hg191466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10268319, essv10268320, essv10268321, essv10268326, essv10268317, essv10268318, essv10268324, essv10268325, essv10268322, essv10268323, essv10268316
SamplesHG02050, HG02016, HG00448, HG01599, HG00675, HG02522, NA19085, HG00513, HG02032, HG00759, NA18997
Known GenesPLEKHA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588617
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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