A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11257994



Internal ID3702544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186175049..186183937hg38UCSC Ensembl
Innerchr3:186175099..186183887hg38UCSC Ensembl
Outerchr3:186174972..186184014hg38UCSC Ensembl
chr3:185892838..185901726hg19UCSC Ensembl
Innerchr3:185892888..185901676hg19UCSC Ensembl
Outerchr3:185892761..185901803hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg388889
hg198889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598985
Supporting Variants
SamplesHG03303
Known GenesDGKG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11257994
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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