A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602657



Internal ID6642913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150552223..150553573hg38UCSC Ensembl
Innerchr4:150552244..150553552hg38UCSC Ensembl
Outerchr4:150552202..150553594hg38UCSC Ensembl
chr4:151473375..151474725hg19UCSC Ensembl
Innerchr4:151473396..151474704hg19UCSC Ensembl
Outerchr4:151473354..151474746hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11653082, essv11653085, essv11653083, essv11653084
SamplesNA19030, NA19451, NA19320, NA19020
Known GenesLRBA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602657
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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