A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700624



Internal ID3702440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14199695..14200437hg38UCSC Ensembl
Innerchr10:14199695..14200437hg38UCSC Ensembl
Outerchr10:14199485..14200689hg38UCSC Ensembl
chr10:14241694..14242436hg19UCSC Ensembl
Innerchr10:14241694..14242436hg19UCSC Ensembl
Outerchr10:14241484..14242688hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622418
Supporting Variants
SamplesHG02658
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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