A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10206758



Internal ID5294746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:181449077..181457184hg38UCSC Ensembl
Innerchr1:181449077..181457184hg38UCSC Ensembl
Outerchr1:181448725..181457531hg38UCSC Ensembl
chr1:181418213..181426320hg19UCSC Ensembl
Innerchr1:181418213..181426320hg19UCSC Ensembl
Outerchr1:181417861..181426667hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg388108
hg198108
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588085
Supporting Variants
SamplesNA18748
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10206758
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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