A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597554



Internal ID6984693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119240620..119281862hg38UCSC Ensembl
Innerchr3:119240620..119281862hg38UCSC Ensembl
Outerchr3:119240120..119282362hg38UCSC Ensembl
chr3:118959467..119000709hg19UCSC Ensembl
Innerchr3:118959467..119000709hg19UCSC Ensembl
Outerchr3:118958967..119001209hg19UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3841243
hg1941243
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11116264
SamplesNA12489
Known GenesB4GALT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597554
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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