A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586041



Internal ID6973560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51628725..51630527hg38UCSC Ensembl
Innerchr1:51628725..51630527hg38UCSC Ensembl
Outerchr1:51628420..51630863hg38UCSC Ensembl
chr1:52094397..52096199hg19UCSC Ensembl
Innerchr1:52094397..52096199hg19UCSC Ensembl
Outerchr1:52094092..52096535hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381803
hg191803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929333, essv9929334, essv9929326, essv9929329, essv9929328, essv9929332, essv9929331, essv9929325, essv9929327, essv9929330, essv9929324
SamplesHG02002, NA19795, NA19746, NA19725, HG02292, HG02304, HG01174, NA19785, HG01935, HG01377, HG01927
Known GenesOSBPL9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586041
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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