A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588824



Internal ID6629115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216200351..216204363hg38UCSC Ensembl
Innerchr1:216200351..216204363hg38UCSC Ensembl
Outerchr1:216200228..216204501hg38UCSC Ensembl
chr1:216373693..216377705hg19UCSC Ensembl
Innerchr1:216373693..216377705hg19UCSC Ensembl
Outerchr1:216373570..216377843hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384013
hg194013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10293490, essv10293489
SamplesHG02585, HG00251
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588824
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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