A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589517



Internal ID6976845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247490452..247491914hg38UCSC Ensembl
Innerchr1:247490453..247491913hg38UCSC Ensembl
Outerchr1:247490451..247491915hg38UCSC Ensembl
chr1:247653754..247655216hg19UCSC Ensembl
Innerchr1:247653755..247655215hg19UCSC Ensembl
Outerchr1:247653753..247655217hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381463
hg191463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373728, essv10373720, essv10373735, essv10373722, essv10373732, essv10373723, essv10373729, essv10373730, essv10373736, essv10373724, essv10373727, essv10373717, essv10373725, essv10373718, essv10373726, essv10373721, essv10373719, essv10373734, essv10373716, essv10373733, essv10373731, essv10373715
SamplesHG02386, HG00626, NA19058, HG02029, HG02058, HG02356, NA18962, NA18967, NA18567, NA19088, NA18949, HG02389, HG02187, HG02178, NA19070, HG01797, HG00428, NA18757, HG02399, HG02371, HG00759, NA18740
Known GenesOR2W5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589517
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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