A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863424



Internal ID5957052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14948229..14953121hg38UCSC Ensembl
Innerchr1:14948229..14953121hg38UCSC Ensembl
Outerchr1:14947729..14953621hg38UCSC Ensembl
chr1:15274725..15279617hg19UCSC Ensembl
Innerchr1:15274725..15279617hg19UCSC Ensembl
Outerchr1:15274225..15280117hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg384893
hg194893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585294
Supporting Variants
SamplesNA19375
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863424
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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