A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13700552



Internal ID3702375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14187156..14187889hg38UCSC Ensembl
Innerchr10:14187206..14187839hg38UCSC Ensembl
Outerchr10:14187045..14188000hg38UCSC Ensembl
chr10:14229155..14229888hg19UCSC Ensembl
Innerchr10:14229205..14229838hg19UCSC Ensembl
Outerchr10:14229044..14229999hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622417
Supporting Variants
SamplesNA20795
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13700552
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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