A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638112



Internal ID6678210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:18596304..18599192hg38UCSC Ensembl
Innerchr16:18596320..18599176hg38UCSC Ensembl
Outerchr16:18596288..18599208hg38UCSC Ensembl
chr16:18607626..18610514hg19UCSC Ensembl
Innerchr16:18607642..18610498hg19UCSC Ensembl
Outerchr16:18607610..18610530hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15397992, essv15397999, essv15397995, essv15398003, essv15397994, essv15397990, essv15397989, essv15397996, essv15397993, essv15397998, essv15397997, essv15397991, essv15397988, essv15398002, essv15398001, essv15397987, essv15398000
SamplesNA18641, HG01806, HG00622, HG03436, HG02185, HG00599, NA19681, HG02187, HG02134, HG02166, HG00500, NA18976, HG02081, HG03391, NA18950, NA19786, NA19004
Known GenesABCC6P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638112
Frequency
Sample Size2504
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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