A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9891262



Internal ID6516555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:24513156..24513626hg38UCSC Ensembl
Innerchr1:24513159..24513623hg38UCSC Ensembl
Outerchr1:24513153..24513629hg38UCSC Ensembl
chr1:24839646..24840116hg19UCSC Ensembl
Innerchr1:24839649..24840113hg19UCSC Ensembl
Outerchr1:24839643..24840119hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585504
Supporting Variants
SamplesHG01872
Known GenesRCAN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9891262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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