A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622714



Internal ID7009572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27314835..27400835hg38UCSC Ensembl
chr10:27603764..27689764hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3886001
hg1986001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13732588, essv13732583, essv13732587, essv13732581, essv13732582, essv13732579, essv13732580, essv13732589, essv13732585, essv13732584, essv13732586
SamplesNA19700, NA12286, HG02661, NA20517, NA20513, HG00281, NA20519, HG00250, HG02219, NA20542, HG01395
Known GenesPTCHD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622714
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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