A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15036111



Internal ID6323616
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634683
Supporting Variants
SamplesNA19920
Known GenesPRKCH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15036111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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