A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9917156



Internal ID6918202
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585819
Supporting Variants
SamplesNA21116
Known GenesSCMH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9917156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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