A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592205



Internal ID6979532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121334571..121336140hg38UCSC Ensembl
Innerchr2:121334571..121336140hg38UCSC Ensembl
Outerchr2:121334271..121336431hg38UCSC Ensembl
chr2:122092147..122093716hg19UCSC Ensembl
Innerchr2:122092147..122093716hg19UCSC Ensembl
Outerchr2:122091847..122094007hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381570
hg191570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10644329, essv10644316, essv10644325, essv10644330, essv10644335, essv10644333, essv10644328, essv10644327, essv10644320, essv10644336, essv10644318, essv10644321, essv10644331, essv10644319, essv10644326, essv10644322, essv10644332, essv10644314, essv10644315, essv10644334, essv10644323, essv10644324, essv10644317
SamplesHG01885, NA18881, HG02419, NA18870, HG03133, HG03082, NA19307, NA19131, HG02946, NA19239, NA18864, HG03291, NA19236, HG03472, HG03085, HG01311, NA19449, HG01990, HG02255, HG02546, NA19435, HG03084, NA19713
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592205
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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