A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10032564



Internal ID34380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100988657..100992115hg38UCSC Ensembl
chr1:101454213..101457671hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg383459
hg193459
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586959
Supporting Variants
SamplesNA18597
Known GenesDPH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10032564
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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