A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13831665



Internal ID3833481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:59691165..59692348hg38UCSC Ensembl
Innerchr10:59691165..59692348hg38UCSC Ensembl
Outerchr10:59690905..59692584hg38UCSC Ensembl
chr10:61450923..61452106hg19UCSC Ensembl
Innerchr10:61450923..61452106hg19UCSC Ensembl
Outerchr10:61450663..61452342hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623459
Supporting Variants
SamplesNA18995
Known GenesSLC16A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13831665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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