A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9972683



Internal ID3644369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:73770219..73772940hg38UCSC Ensembl
Innerchr1:73770247..73772912hg38UCSC Ensembl
Outerchr1:73770191..73772968hg38UCSC Ensembl
chr1:74235902..74238623hg19UCSC Ensembl
Innerchr1:74235930..74238595hg19UCSC Ensembl
Outerchr1:74235874..74238651hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382722
hg192722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586441
Supporting Variants
SamplesHG03240
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9972683
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer