A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9921147



Internal ID6546440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43176059..43185698hg38UCSC Ensembl
Innerchr1:43176059..43185698hg38UCSC Ensembl
Outerchr1:43175559..43186198hg38UCSC Ensembl
chr1:43641730..43651369hg19UCSC Ensembl
Innerchr1:43641730..43651369hg19UCSC Ensembl
Outerchr1:43641230..43651869hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg389640
hg199640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585863
Supporting Variants
SamplesHG01894
Known GenesWDR65
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9921147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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