A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12169554



Internal ID2171370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:381951..500339hg38UCSC Ensembl
Innerchr6:381951..500339hg38UCSC Ensembl
Outerchr6:381451..500839hg38UCSC Ensembl
chr6:381951..500339hg19UCSC Ensembl
Innerchr6:381951..500339hg19UCSC Ensembl
Outerchr6:381451..500839hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38118389
hg19118389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607852
Supporting Variants
SamplesHG03917
Known GenesEXOC2, IRF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12169554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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