A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13814558



Internal ID5577728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53988699..53992140hg38UCSC Ensembl
Innerchr10:53988699..53992140hg38UCSC Ensembl
Outerchr10:53988497..53992378hg38UCSC Ensembl
chr10:55748459..55751900hg19UCSC Ensembl
Innerchr10:55748459..55751900hg19UCSC Ensembl
Outerchr10:55748257..55752138hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383442
hg193442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623303
Supporting Variants
SamplesNA19023
Known GenesPCDH15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13814558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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