A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13977615



Internal ID3979431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:131249138..132223150hg38UCSC Ensembl
Innerchr10:131249288..132223000hg38UCSC Ensembl
Outerchr10:131248988..132223300hg38UCSC Ensembl
chr10:133047401..134036654hg19UCSC Ensembl
Innerchr10:133047551..134036504hg19UCSC Ensembl
Outerchr10:133047251..134036804hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38974013
hg19989254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624956
Supporting Variants
SamplesNA19428
Known GenesBNIP3, DPYSL4, FLJ46300, JAKMIP3, PPP2R2D, STK32C, TCERG1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13977615
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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