A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10918331



Internal ID5167592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9992252..9993428hg38UCSC Ensembl
Innerchr3:9992252..9993428hg38UCSC Ensembl
Outerchr3:9992084..9993601hg38UCSC Ensembl
chr3:10033936..10035112hg19UCSC Ensembl
Innerchr3:10033936..10035112hg19UCSC Ensembl
Outerchr3:10033768..10035285hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595257
Supporting Variants
SamplesNA18597
Known GenesEMC3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10918331
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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