A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623242



Internal ID6663410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52109583..52110146hg38UCSC Ensembl
Innerchr10:52109629..52110101hg38UCSC Ensembl
Outerchr10:52109538..52110192hg38UCSC Ensembl
chr10:53869343..53869906hg19UCSC Ensembl
Innerchr10:53869389..53869861hg19UCSC Ensembl
Outerchr10:53869298..53869952hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38564
hg19564
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13806121, essv13806126, essv13806138, essv13806133, essv13806120, essv13806127, essv13806140, essv13806130, essv13806128, essv13806136, essv13806119, essv13806124, essv13806125, essv13806129, essv13806131, essv13806123, essv13806141, essv13806137, essv13806139, essv13806134, essv13806135, essv13806122, essv13806132
SamplesHG03280, HG03129, HG02896, HG03571, NA18865, HG02322, HG03538, NA18505, HG03558, HG03470, NA20356, NA19393, HG02562, HG03455, NA18522, HG03366, HG03157, HG03105, HG02679, HG02721, NA18853, HG03515, HG02855
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623242
Frequency
Sample Size2504
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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