A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9952937



Internal ID1081591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64386395..64441436hg38UCSC Ensembl
Innerchr1:64386395..64441436hg38UCSC Ensembl
Outerchr1:64385895..64441936hg38UCSC Ensembl
chr1:64852078..64907119hg19UCSC Ensembl
Innerchr1:64852078..64907119hg19UCSC Ensembl
Outerchr1:64851578..64907619hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3855042
hg1955042
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586263
Supporting Variants
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9952937
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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