A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606956



Internal ID6993891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140836164..140842460hg38UCSC Ensembl
chr5:140215749..140222045hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12077020, essv12077021, essv12077012, essv12077000, essv12077017, essv12076994, essv12077022, essv12077003, essv12077026, essv12077007, essv12077024, essv12077019, essv12077005, essv12077001, essv12077008, essv12077006, essv12077014, essv12076996, essv12077004, essv12076993, essv12077016, essv12077015, essv12077009, essv12077027, essv12076995, essv12077023, essv12077002, essv12077013, essv12076997, essv12076999, essv12077025, essv12076998, essv12077018, essv12077010, essv12077011
SamplesNA19222, HG03247, NA11920, HG00257, HG02852, HG01066, HG02017, HG03069, HG03680, HG00337, HG03436, NA19384, NA19207, NA19317, NA19159, HG03380, NA19025, HG01524, HG03132, HG00145, NA12872, NA19391, HG01142, HG00344, HG03575, HG00531, HG01705, HG00146, NA19225, HG03473, NA20897, HG01577, HG03077, NA12154, HG00255
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606956
Frequency
Sample Size2504
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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