A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079738



Internal ID1835474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115138197..115139303hg38UCSC Ensembl
Innerchr1:115138200..115139301hg38UCSC Ensembl
Outerchr1:115138195..115139306hg38UCSC Ensembl
chr1:115680818..115681924hg19UCSC Ensembl
Innerchr1:115680821..115681922hg19UCSC Ensembl
Outerchr1:115680816..115681927hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587280
Supporting Variants
SamplesHG01704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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