A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9944162



Internal ID6569455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59581053..59584966hg38UCSC Ensembl
Innerchr1:59581054..59584966hg38UCSC Ensembl
Outerchr1:59581053..59584967hg38UCSC Ensembl
chr1:60046725..60050638hg19UCSC Ensembl
Innerchr1:60046726..60050638hg19UCSC Ensembl
Outerchr1:60046725..60050639hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383914
hg193914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586186
Supporting Variants
SamplesNA19117
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9944162
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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