A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10373378



Internal ID2734755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246923472..246927397hg38UCSC Ensembl
Innerchr1:246923472..246927397hg38UCSC Ensembl
Outerchr1:246922972..246927897hg38UCSC Ensembl
chr1:247086774..247090699hg19UCSC Ensembl
Innerchr1:247086774..247090699hg19UCSC Ensembl
Outerchr1:247086274..247091199hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383926
hg193926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589497
Supporting Variants
SamplesHG02406
Known GenesAHCTF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10373378
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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