A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9944623



Internal ID6569916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59582956..59583983hg38UCSC Ensembl
Innerchr1:59582956..59583983hg38UCSC Ensembl
Outerchr1:59582511..59584367hg38UCSC Ensembl
chr1:60048628..60049655hg19UCSC Ensembl
Innerchr1:60048628..60049655hg19UCSC Ensembl
Outerchr1:60048183..60050039hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586187
Supporting Variants
SamplesHG03162
Known GenesFGGY
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9944623
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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