A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13894419



Internal ID1643822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:91548413..91552934hg38UCSC Ensembl
Innerchr10:91548413..91552934hg38UCSC Ensembl
Outerchr10:91548083..91553204hg38UCSC Ensembl
chr10:93308170..93312691hg19UCSC Ensembl
Innerchr10:93308170..93312691hg19UCSC Ensembl
Outerchr10:93307840..93312961hg19UCSC Ensembl
Cytoband10q23.32
Allele length
AssemblyAllele length
hg384522
hg194522
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624209
Supporting Variants
SamplesHG01513
Known GenesLOC100188947
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13894419
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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