A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11253015



Internal ID4568567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183191918..183193428hg38UCSC Ensembl
Innerchr3:183191969..183193377hg38UCSC Ensembl
Outerchr3:183191867..183193479hg38UCSC Ensembl
chr3:182909706..182911216hg19UCSC Ensembl
Innerchr3:182909757..182911165hg19UCSC Ensembl
Outerchr3:182909655..182911267hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381511
hg191511
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598922
Supporting Variants
SamplesHG04075
Known GenesMCF2L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11253015
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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