A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590095



Internal ID6630382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25459620..25461103hg38UCSC Ensembl
Innerchr2:25459620..25461103hg38UCSC Ensembl
Outerchr2:25459386..25461326hg38UCSC Ensembl
chr2:25682489..25683972hg19UCSC Ensembl
Innerchr2:25682489..25683972hg19UCSC Ensembl
Outerchr2:25682255..25684195hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381484
hg191484
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10433147, essv10433146, essv10433139, essv10433140, essv10433137, essv10433145, essv10433149, essv10433144, essv10433150, essv10433151, essv10433141, essv10433148, essv10433152, essv10433143, essv10433153, essv10433136, essv10433138, essv10433142
SamplesNA20787, HG01700, HG00129, HG02023, HG02407, HG00657, HG00122, HG02231, HG01188, HG00355, HG01204, HG04152, HG02259, HG02221, HG01815, HG01786, NA20534, HG01746
Known GenesDTNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590095
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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