A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3624241



Internal ID7011097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:93656648..93657230hg38UCSC Ensembl
Innerchr10:93656681..93657197hg38UCSC Ensembl
Outerchr10:93656615..93657263hg38UCSC Ensembl
chr10:95416405..95416987hg19UCSC Ensembl
Innerchr10:95416438..95416954hg19UCSC Ensembl
Outerchr10:95416372..95417020hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13899692, essv13899677, essv13899675, essv13899684, essv13899686, essv13899689, essv13899687, essv13899679, essv13899676, essv13899682, essv13899673, essv13899690, essv13899678, essv13899674, essv13899680, essv13899691, essv13899688, essv13899672, essv13899685, essv13899681, essv13899683
SamplesNA18997, HG02386, HG01031, HG00699, HG02040, HG00717, HG02140, HG00458, NA18582, HG02138, HG02134, NA18645, NA18614, HG02136, HG01797, HG02152, HG02179, HG02398, HG01028, HG01807, HG02406
Known GenesPDE6C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3624241
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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