A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10151235



Internal ID1046193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153516227..153523164hg38UCSC Ensembl
Innerchr1:153516377..153523014hg38UCSC Ensembl
Outerchr1:153516077..153523314hg38UCSC Ensembl
chr1:153488703..153495640hg19UCSC Ensembl
Innerchr1:153488853..153495490hg19UCSC Ensembl
Outerchr1:153488553..153495790hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386938
hg196938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587586
Supporting Variants
SamplesHG00671
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10151235
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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