A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585819



Internal ID6973339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41049509..41053926hg38UCSC Ensembl
Innerchr1:41049532..41053904hg38UCSC Ensembl
Outerchr1:41049487..41053949hg38UCSC Ensembl
chr1:41515181..41519598hg19UCSC Ensembl
Innerchr1:41515204..41519576hg19UCSC Ensembl
Outerchr1:41515159..41519621hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384418
hg194418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9917154, essv9917156, essv9917155, essv9917151, essv9917152, essv9917153
SamplesNA21116, NA20903, HG04093, HG03692, HG04171, HG03864
Known GenesSCMH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585819
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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