A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585585



Internal ID6625902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28507394..28508667hg38UCSC Ensembl
Innerchr1:28507409..28508652hg38UCSC Ensembl
Outerchr1:28507379..28508682hg38UCSC Ensembl
chr1:28833906..28835179hg19UCSC Ensembl
Innerchr1:28833921..28835164hg19UCSC Ensembl
Outerchr1:28833891..28835194hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg381274
hg191274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894782, essv9894775, essv9894761, essv9894776, essv9894762, essv9894780, essv9894766, essv9894779, essv9894757, essv9894783, essv9894759, essv9894763, essv9894764, essv9894758, essv9894785, essv9894777, essv9894781, essv9894767, essv9894760, essv9894765, essv9894772, essv9894773, essv9894771, essv9894768, essv9894778, essv9894769, essv9894784, essv9894774, essv9894770
SamplesHG00235, NA12286, NA11829, HG00244, HG00364, NA12340, HG00179, HG01167, HG00330, HG01072, NA12748, HG00349, NA12872, HG00732, NA20314, HG00344, HG00321, HG03238, HG00353, HG02682, HG01623, NA20792, HG01086, HG01055, HG00186, HG03925, HG01509, NA20754, HG01976
Known GenesRCC1, SNHG3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585585
Frequency
Sample Size2504
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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