A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11040433



Internal ID3289370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:74913132..74920381hg38UCSC Ensembl
Innerchr3:74913132..74920381hg38UCSC Ensembl
Outerchr3:74912985..74920565hg38UCSC Ensembl
chr3:74962283..74969532hg19UCSC Ensembl
Innerchr3:74962283..74969532hg19UCSC Ensembl
Outerchr3:74962136..74969716hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg387250
hg197250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596587
Supporting Variants
SamplesHG02922
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11040433
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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