A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11040429



Internal ID901308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:74910706..74914683hg38UCSC Ensembl
Innerchr3:74910756..74914633hg38UCSC Ensembl
Outerchr3:74910649..74914740hg38UCSC Ensembl
chr3:74959857..74963834hg19UCSC Ensembl
Innerchr3:74959907..74963784hg19UCSC Ensembl
Outerchr3:74959800..74963891hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg383978
hg193978
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596584
Supporting Variants
SamplesHG00525
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11040429
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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