A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586032



Internal ID6626346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51252532..51257060hg38UCSC Ensembl
Innerchr1:51252553..51257040hg38UCSC Ensembl
Outerchr1:51252512..51257081hg38UCSC Ensembl
chr1:51718204..51722732hg19UCSC Ensembl
Innerchr1:51718225..51722712hg19UCSC Ensembl
Outerchr1:51718184..51722753hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384529
hg194529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929181
SamplesHG01880
Known GenesRNF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586032
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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