A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623222



Internal ID6663390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50994861..50998312hg38UCSC Ensembl
Innerchr10:50994861..50998312hg38UCSC Ensembl
Outerchr10:50994690..50998502hg38UCSC Ensembl
chr10:52754621..52758072hg19UCSC Ensembl
Innerchr10:52754621..52758072hg19UCSC Ensembl
Outerchr10:52754450..52758262hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129e214
Supporting Variantsessv13803479
SamplesHG02462
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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