A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10288800



Internal ID5114792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212907763..212908669hg38UCSC Ensembl
Innerchr1:212907763..212908669hg38UCSC Ensembl
Outerchr1:212907595..212908862hg38UCSC Ensembl
chr1:213081105..213082011hg19UCSC Ensembl
Innerchr1:213081105..213082011hg19UCSC Ensembl
Outerchr1:213080937..213082204hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588759
Supporting Variants
SamplesNA18560
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10288800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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