A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588818



Internal ID6629109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215804435..215806440hg38UCSC Ensembl
Innerchr1:215804454..215806422hg38UCSC Ensembl
Outerchr1:215804417..215806459hg38UCSC Ensembl
chr1:215977777..215979782hg19UCSC Ensembl
Innerchr1:215977796..215979764hg19UCSC Ensembl
Outerchr1:215977759..215979801hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382006
hg192006
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293097
SamplesHG03437
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588818
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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