A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602667



Internal ID6642923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:150833232..150833856hg38UCSC Ensembl
Innerchr4:150833232..150833856hg38UCSC Ensembl
Outerchr4:150832928..150834170hg38UCSC Ensembl
chr4:151754384..151755008hg19UCSC Ensembl
Innerchr4:151754384..151755008hg19UCSC Ensembl
Outerchr4:151754080..151755322hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38625
hg19625
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11653105, essv11653101, essv11653103, essv11653104, essv11653102, essv11653106, essv11653107
SamplesNA18917, HG03190, HG03518, HG02461, NA19257, NA19434, HG02839
Known GenesLRBA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602667
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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