A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600507



Internal ID6987550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:52733612..52734592hg38UCSC Ensembl
Innerchr4:52733631..52734574hg38UCSC Ensembl
Outerchr4:52733594..52734611hg38UCSC Ensembl
chr4:53599779..53600759hg19UCSC Ensembl
Innerchr4:53599798..53600741hg19UCSC Ensembl
Outerchr4:53599761..53600778hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11432307, essv11432328, essv11432296, essv11432316, essv11432324, essv11432306, essv11432317, essv11432322, essv11432300, essv11432320, essv11432318, essv11432329, essv11432325, essv11432308, essv11432313, essv11432302, essv11432294, essv11432310, essv11432295, essv11432301, essv11432311, essv11432314, essv11432312, essv11432305, essv11432321, essv11432309, essv11432304, essv11432298, essv11432319, essv11432326, essv11432323, essv11432297, essv11432327, essv11432303, essv11432299, essv11432315
SamplesHG02583, NA19332, NA20274, HG03300, HG02836, NA19020, NA18917, HG02476, HG02589, NA18510, HG03199, HG03074, HG01893, HG03189, HG02461, HG02642, NA19189, HG02427, NA19025, HG02450, HG01889, NA18879, HG02817, HG03354, HG02455, NA19206, HG02282, NA19334, HG03103, NA19328, HG02095, HG03157, HG02646, HG01254, HG03077, HG02763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600507
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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