A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638008



Internal ID6678106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14455611..14456750hg38UCSC Ensembl
Innerchr16:14455612..14456750hg38UCSC Ensembl
Outerchr16:14455611..14456751hg38UCSC Ensembl
chr16:14549468..14550607hg19UCSC Ensembl
Innerchr16:14549469..14550607hg19UCSC Ensembl
Outerchr16:14549468..14550608hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381140
hg191140
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15379379, essv15379384, essv15379378, essv15379388, essv15379376, essv15379383, essv15379385, essv15379375, essv15379390, essv15379382, essv15379389, essv15379377, essv15379380, essv15379392, essv15379374, essv15379391, essv15379373, essv15379381, essv15379386, essv15379387
SamplesHG00403, HG02385, NA18565, HG00766, HG00663, HG01599, HG02085, HG00867, NA18638, HG00557, NA18991, HG01810, HG00598, HG02165, NA19003, NA18564, NA18643, HG02353, HG00759, NA18740
Known GenesPARN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638008
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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