A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11241777



Internal ID6239831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178697801..178724619hg38UCSC Ensembl
Innerchr3:178697817..178724604hg38UCSC Ensembl
Outerchr3:178697786..178724635hg38UCSC Ensembl
chr3:178415589..178442407hg19UCSC Ensembl
Innerchr3:178415605..178442392hg19UCSC Ensembl
Outerchr3:178415574..178442423hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3826819
hg1926819
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598824
Supporting Variants
SamplesNA19764
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11241777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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