A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9863416



Internal ID1853604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14860991..14866381hg38UCSC Ensembl
Innerchr1:14861041..14866331hg38UCSC Ensembl
Outerchr1:14860933..14866439hg38UCSC Ensembl
chr1:15187487..15192877hg19UCSC Ensembl
Innerchr1:15187537..15192827hg19UCSC Ensembl
Outerchr1:15187429..15192935hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385391
hg195391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585292
Supporting Variants
SamplesHG01747
Known GenesKAZN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9863416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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