A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585906



Internal ID6973425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45390029..45416461hg38UCSC Ensembl
Innerchr1:45390529..45415961hg38UCSC Ensembl
Outerchr1:45389029..45417461hg38UCSC Ensembl
chr1:45855701..45882133hg19UCSC Ensembl
Innerchr1:45856201..45881633hg19UCSC Ensembl
Outerchr1:45854701..45883133hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3826433
hg1926433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9925750, essv9925749, essv9925751
SamplesHG02715, HG02771, HG02855
Known GenesTESK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585906
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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