A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585390



Internal ID6972914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19035658..19045037hg38UCSC Ensembl
Innerchr1:19036158..19044537hg38UCSC Ensembl
Outerchr1:19034658..19046037hg38UCSC Ensembl
chr1:19362152..19371531hg19UCSC Ensembl
Innerchr1:19362652..19371031hg19UCSC Ensembl
Outerchr1:19361152..19372531hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg389380
hg199380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9878781, essv9878797, essv9878799, essv9878794, essv9878802, essv9878788, essv9878803, essv9878801, essv9878798, essv9878792, essv9878790, essv9878795, essv9878787, essv9878786, essv9878780, essv9878793, essv9878784, essv9878782, essv9878785, essv9878789, essv9878800, essv9878783, essv9878791, essv9878796
SamplesNA20853, HG04194, HG03963, NA21135, HG03640, HG03885, HG02733, HG03888, HG04029, HG03649, HG03644, HG02084, HG02775, HG03781, NA20903, HG03740, HG03755, HG03833, NA21144, HG04140, HG04098, HG02778, HG03890, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585390
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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