A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588928



Internal ID6976344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221570559..221581134hg38UCSC Ensembl
Innerchr1:221570559..221581134hg38UCSC Ensembl
Outerchr1:221570309..221581320hg38UCSC Ensembl
chr1:221743901..221754476hg19UCSC Ensembl
Innerchr1:221743901..221754476hg19UCSC Ensembl
Outerchr1:221743651..221754662hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3810576
hg1910576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10299845, essv10299861, essv10299851, essv10299853, essv10299863, essv10299843, essv10299862, essv10299864, essv10299844, essv10299840, essv10299841, essv10299852, essv10299865, essv10299850, essv10299848, essv10299846, essv10299859, essv10299849, essv10299856, essv10299847, essv10299866, essv10299854, essv10299855, essv10299858, essv10299857, essv10299842, essv10299860, essv10299867
SamplesNA19028, NA19222, HG02891, HG02323, NA19377, HG02589, HG03436, NA19201, NA19119, HG03105, NA18874, HG02461, HG03380, NA18520, HG02009, NA19908, HG02108, HG02887, HG03476, HG03078, HG01890, NA19160, NA19440, NA18517, NA19248, HG02095, NA19096, NA19661
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588928
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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