A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585972



Internal ID6973491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48526674..48530109hg38UCSC Ensembl
Innerchr1:48526676..48530107hg38UCSC Ensembl
Outerchr1:48526672..48530111hg38UCSC Ensembl
chr1:48992346..48995781hg19UCSC Ensembl
Innerchr1:48992348..48995779hg19UCSC Ensembl
Outerchr1:48992344..48995783hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg383436
hg193436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9926918, essv9926920, essv9926921, essv9926919, essv9926913, essv9926914, essv9926916, essv9926915, essv9926917
SamplesHG03449, HG02879, HG03446, HG03109, HG03367, HG03433, NA19324, HG02855, HG02465
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585972
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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