A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634683



Internal ID7021486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61363657..61385148hg38UCSC Ensembl
Innerchr14:61363682..61385124hg38UCSC Ensembl
Outerchr14:61363633..61385173hg38UCSC Ensembl
chr14:61830375..61851866hg19UCSC Ensembl
Innerchr14:61830400..61851842hg19UCSC Ensembl
Outerchr14:61830351..61851891hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3821492
hg1921492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15036109, essv15036111, essv15036110
SamplesNA19920, HG02555, NA19308
Known GenesPRKCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634683
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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