A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10987414



Internal ID989230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:38744975..38748692hg38UCSC Ensembl
Innerchr3:38744983..38748685hg38UCSC Ensembl
Outerchr3:38744968..38748700hg38UCSC Ensembl
chr3:38786466..38790183hg19UCSC Ensembl
Innerchr3:38786474..38790176hg19UCSC Ensembl
Outerchr3:38786459..38790191hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg383718
hg193718
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595914
Supporting Variants
SamplesHG04146
Known GenesSCN10A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10987414
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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