A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585082



Internal ID6972606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5003228..5003829hg38UCSC Ensembl
Innerchr1:5003229..5003829hg38UCSC Ensembl
Outerchr1:5003228..5003830hg38UCSC Ensembl
chr1:5063288..5063889hg19UCSC Ensembl
Innerchr1:5063289..5063889hg19UCSC Ensembl
Outerchr1:5063288..5063890hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9845179, essv9845174, essv9845193, essv9845189, essv9845181, essv9845175, essv9845178, essv9845190, essv9845184, essv9845191, essv9845176, essv9845177, essv9845182, essv9845183, essv9845172, essv9845192, essv9845173, essv9845187, essv9845180, essv9845186, essv9845188, essv9845185
SamplesHG02652, NA20877, NA20863, HG04059, HG03490, HG03873, NA20911, HG03817, HG03744, HG02737, NA21124, HG02787, NA21112, HG04200, HG04141, HG03703, HG03600, HG02654, HG03925, HG03985, HG03886, HG03864
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585082
Frequency
Sample Size2504
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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