A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9859543



Internal ID6047294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13111300..13120001hg38UCSC Ensembl
Innerchr1:13111300..13120001hg38UCSC Ensembl
Outerchr1:13111193..13120243hg38UCSC Ensembl
chr1:13178772..13187474hg19UCSC Ensembl
Innerchr1:13178772..13187474hg19UCSC Ensembl
Outerchr1:13178665..13187716hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388702
hg198703
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585255
Supporting Variants
SamplesNA19446
Known GenesHNRNPCP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9859543
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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