A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623237



Internal ID6663405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51939722..51947174hg38UCSC Ensembl
Innerchr10:51939722..51947174hg38UCSC Ensembl
Outerchr10:51939498..51947455hg38UCSC Ensembl
chr10:53699482..53706934hg19UCSC Ensembl
Innerchr10:53699482..53706934hg19UCSC Ensembl
Outerchr10:53699258..53707215hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg387453
hg197453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13804947, essv13804946, essv13804940, essv13804949, essv13804932, essv13804929, essv13804928, essv13804934, essv13804930, essv13804933, essv13804935, essv13804944, essv13804945, essv13804938, essv13804941, essv13804942, essv13804948, essv13804939, essv13804937, essv13804931, essv13804950, essv13804936, essv13804943
SamplesHG03163, HG02433, NA19092, HG02703, HG02885, HG02588, HG02879, NA19908, HG02953, HG03081, HG02878, NA18879, NA18523, HG02557, HG03240, HG02464, HG02558, NA18501, HG03432, HG02947, HG02763, NA19153, HG02760
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623237
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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