A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10293180



Internal ID294996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216058141..216058660hg38UCSC Ensembl
Innerchr1:216058142..216058660hg38UCSC Ensembl
Outerchr1:216058141..216058661hg38UCSC Ensembl
chr1:216231483..216232002hg19UCSC Ensembl
Innerchr1:216231484..216232002hg19UCSC Ensembl
Outerchr1:216231483..216232003hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38520
hg19520
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588822
Supporting Variants
SamplesHG00324
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10293180
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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