A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611228



Internal ID6998139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:150228684..150234901hg38UCSC Ensembl
Innerchr6:150228685..150234900hg38UCSC Ensembl
Outerchr6:150228683..150234902hg38UCSC Ensembl
chr6:150549820..150556037hg19UCSC Ensembl
Innerchr6:150549821..150556036hg19UCSC Ensembl
Outerchr6:150549819..150556038hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386218
hg196218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12581201, essv12581200
SamplesHG02379, HG02353
Known GenesPPP1R14C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611228
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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