A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15210531



Internal ID2879854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34296496..34300745hg38UCSC Ensembl
Innerchr15:34296546..34300695hg38UCSC Ensembl
Outerchr15:34296446..34300795hg38UCSC Ensembl
chr15:34588697..34592946hg19UCSC Ensembl
Innerchr15:34588747..34592896hg19UCSC Ensembl
Outerchr15:34588647..34592996hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg384250
hg194250
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3636110
Supporting Variants
SamplesHG02555
Known GenesSLC12A6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15210531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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