A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10291189



Internal ID1683464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213139115..213146886hg38UCSC Ensembl
Innerchr1:213139135..213146867hg38UCSC Ensembl
Outerchr1:213139096..213146906hg38UCSC Ensembl
chr1:213312458..213320229hg19UCSC Ensembl
Innerchr1:213312478..213320210hg19UCSC Ensembl
Outerchr1:213312439..213320249hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387772
hg197772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588764
Supporting Variants
SamplesHG01556
Known GenesRPS6KC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10291189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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