A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9910307



Internal ID3568739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37590655..37591681hg38UCSC Ensembl
Innerchr1:37590688..37591649hg38UCSC Ensembl
Outerchr1:37590623..37591714hg38UCSC Ensembl
chr1:38056256..38057282hg19UCSC Ensembl
Innerchr1:38056289..38057250hg19UCSC Ensembl
Outerchr1:38056224..38057315hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381027
hg191027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585754
Supporting Variants
SamplesHG03159
Known GenesGNL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9910307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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