A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600457



Internal ID6987500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47989677..47990053hg38UCSC Ensembl
Innerchr4:47989684..47990047hg38UCSC Ensembl
Outerchr4:47989671..47990060hg38UCSC Ensembl
chr4:47991694..47992070hg19UCSC Ensembl
Innerchr4:47991701..47992064hg19UCSC Ensembl
Outerchr4:47991688..47992077hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38377
hg19377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11427918, essv11427922, essv11427928, essv11427925, essv11427943, essv11427920, essv11427949, essv11427923, essv11427936, essv11427944, essv11427954, essv11427929, essv11427948, essv11427933, essv11427955, essv11427930, essv11427937, essv11427950, essv11427946, essv11427951, essv11427935, essv11427945, essv11427917, essv11427932, essv11427947, essv11427938, essv11427919, essv11427952, essv11427941, essv11427934, essv11427953, essv11427931, essv11427921, essv11427927, essv11427924, essv11427942, essv11427940, essv11427939, essv11427926, essv11427956
SamplesNA19466, NA19355, HG03455, NA19393, NA20356, HG03074, HG03082, NA19201, HG03499, NA19197, HG02054, NA19041, HG03520, HG02315, NA18868, NA19372, HG02885, NA19471, NA18933, HG02678, HG03291, NA18516, HG03457, HG02014, HG01948, NA19449, HG02675, HG02722, NA19147, HG02923, NA19835, HG02580, HG02814, HG02771, HG03157, HG02970, HG03410, NA19121, NA19430, HG02808
Known GenesCNGA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600457
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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