A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863417



Internal ID1477439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14890711..14894109hg38UCSC Ensembl
Innerchr1:14890711..14894109hg38UCSC Ensembl
Outerchr1:14890662..14894157hg38UCSC Ensembl
chr1:15217207..15220605hg19UCSC Ensembl
Innerchr1:15217207..15220605hg19UCSC Ensembl
Outerchr1:15217158..15220653hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383399
hg193399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585293
Supporting Variants
SamplesHG01362
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863417
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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