A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9924609



Internal ID3887646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44111862..44115420hg38UCSC Ensembl
Innerchr1:44112012..44115270hg38UCSC Ensembl
Outerchr1:44111712..44115570hg38UCSC Ensembl
chr1:44577534..44581092hg19UCSC Ensembl
Innerchr1:44577684..44580942hg19UCSC Ensembl
Outerchr1:44577384..44581242hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585879
Supporting Variants
SamplesHG03538
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9924609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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