A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585645



Internal ID6973165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31260563..31261042hg38UCSC Ensembl
Innerchr1:31260566..31261040hg38UCSC Ensembl
Outerchr1:31260561..31261045hg38UCSC Ensembl
chr1:31733410..31733889hg19UCSC Ensembl
Innerchr1:31733413..31733887hg19UCSC Ensembl
Outerchr1:31733408..31733892hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38480
hg19480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9895615, essv9895613, essv9895614
SamplesHG01372, HG00253, NA20511
Known GenesSNRNP40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585645
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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