A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585711



Internal ID6973231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:34849933..34857047hg38UCSC Ensembl
Innerchr1:34849950..34857030hg38UCSC Ensembl
Outerchr1:34849916..34857064hg38UCSC Ensembl
chr1:35315534..35322648hg19UCSC Ensembl
Innerchr1:35315551..35322631hg19UCSC Ensembl
Outerchr1:35315517..35322665hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg387115
hg197115
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9899584
SamplesHG01704
Known GenesSMIM12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585711
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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