A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15063906



Internal ID4069994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75054238..75058816hg38UCSC Ensembl
Innerchr14:75054239..75058816hg38UCSC Ensembl
Outerchr14:75054238..75058817hg38UCSC Ensembl
chr14:75520941..75525519hg19UCSC Ensembl
Innerchr14:75520942..75525519hg19UCSC Ensembl
Outerchr14:75520941..75525520hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg384579
hg194579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634953
Supporting Variants
SamplesHG03703
Known GenesACYP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15063906
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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