A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10053157



Internal ID1887336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108806052..108806931hg38UCSC Ensembl
Innerchr1:108806054..108806929hg38UCSC Ensembl
Outerchr1:108806050..108806933hg38UCSC Ensembl
chr1:109348674..109349553hg19UCSC Ensembl
Innerchr1:109348676..109349551hg19UCSC Ensembl
Outerchr1:109348672..109349555hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587137
Supporting Variants
SamplesHG01776
Known GenesSTXBP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10053157
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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